A20S (p.Ala20Ser) variant of C2CD2L (O14523)
A20S (p.Ala20Ser) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 11-119107799-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available