A116T (p.Ala116Thr) variant of COMP (P49747)
A116T (p.Ala116Thr) in COMP (P49747) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55875
- gnomAD rs2055200068
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- ESM-1b 0.09
- AlphaMissense 0.07
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available