A92S (p.Ala92Ser) variant of COMP (P49747)
A92S (p.Ala92Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A92S (p.Ala92Ser) variant details
- p.Ala92Ser
- TOPMed rs2055200945
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available