Send feedback

MET p.Pro164=

c.492A>G · rs2116590231 · VCV1909088

Likely benign Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Conditions
1
renal cell carcinoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI—not assessed · no allele here is in the release
Constraint at this position
ConservationphyloP -0.57GERP -3.6
Overall
CADD2.511PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 8.48e-05% European (non-Finnish) · 1/1,179,928 alleles
Overall 6.2e-05% 1/1,613,924 alleles · very rare exomes 1/1,461,720 · genomes 0/152,204 · 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
MET
Protein
p.Pro164=
Coding
c.492A>G
MANE Select
NM_000245
dbSNP
rs2116590231
Type
single nucleotide variant
Location
chr7:116699576 (GRCh38)
Gene constraint
LOEUF 0.446 · pLI 1.00 (gnomAD)
Structure
AlphaFold pLDDT 79.28 · 130 PDB
Residue 164
an α-helix; the sema domain
Full MET gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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/met-p-pro164 (accessed [today's date]).

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