A34V (p.Ala34Val) variant of C2CD2L (O14523)
A34V (p.Ala34Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 11-119107842-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available