A101V (p.Ala101Val) variant of COMP (P49747)
A101V (p.Ala101Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A101V (p.Ala101Val) variant details
- p.Ala101Val
- NCI-TCGA TCGA novel
- Ensembl rs2055200573
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.02
- ESM-1b 0.28
- AlphaMissense 0.09
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available