Is PALLD p.Pro773= (c.2319T>C) pathogenic?

PALLD p.Pro773= (c.2319T>C) is classified Likely benign in PALLD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2019-10-26). Very rare (popmax 0.0011%, sas); Associated with pancreatic adenocarcinoma.

What condition is associated with PALLD p.Pro773= (c.2319T>C)?

PALLD p.Pro773= (c.2319T>C) is associated with pancreatic adenocarcinoma (ClinVar).

How common is PALLD p.Pro773= (c.2319T>C) in the general population?

PALLD p.Pro773= (c.2319T>C) is very rare (popmax 0.0011%, sas) (gnomAD).

PALLD p.Pro773=

c.2319T>C · rs961514057 · VCV1154095

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.0011%, sas)

Conditions

pancreatic adenocarcinoma

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -7.3	GERP -4.7
Overall
CADD	0.531	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0011% South Asian · 1/91,078 alleles

Overall 6.2e-05% 1/1,613,972 alleles · very rare exomes 1/1,461,632 · genomes 0/152,340 · joint denominator

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.Pro773=
Coding: c.2319T>C
MANE Select: NM_001166108
dbSNP: rs961514057
Type: single nucleotide variant
Location: chr4:168898561 (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-pro773 (accessed [today's date]).

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