Is PALLD p.Val968= (c.2904A>G) pathogenic?

PALLD p.Val968= (c.2904A>G) is classified Likely benign in PALLD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2021-08-12). Very rare (popmax 0.00447%, eas); Associated with pancreatic adenocarcinoma.

What condition is associated with PALLD p.Val968= (c.2904A>G)?

PALLD p.Val968= (c.2904A>G) is associated with pancreatic adenocarcinoma (ClinVar).

How common is PALLD p.Val968= (c.2904A>G) in the general population?

PALLD p.Val968= (c.2904A>G) is very rare (popmax 0.00447%, eas) (gnomAD).

PALLD p.Val968=

c.2904A>G · rs781313666 · VCV1640001

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00447%, eas)

Conditions

pancreatic adenocarcinoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.034	moderately benign-leaning
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -5.2	GERP -4.7
Overall
CADD	0.37	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00447% East Asian · 2/44,744 alleles

Filtering AF 0.000741% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000277%

Overall 0.000186% 3/1,609,784 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00447%	22,372
Remaining individualsnot grpmax-eligible	0.0016%	62,360

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: PALLD
Protein: p.Val968=
Coding: c.2904A>G
MANE Select: NM_001166108
dbSNP: rs781313666
Type: single nucleotide variant
Location: chr4:168921587 (GRCh38)

Full PALLD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

pancreatic adenocarcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/palld-p-val968 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown