A13V (p.Ala13Val) variant of C2CD2L (O14523)
A13V (p.Ala13Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 11-119107779-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available