A43S (p.Ala43Ser) variant of COMP (P49747)
A43S (p.Ala43Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- Ensembl rs868510638
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 0.77
- Population evidence available
- Structural context available