A14V (p.Ala14Val) variant of C2CD2L (O14523)
A14V (p.Ala14Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 11-119107782-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.60
- PolyPhen-2 0.14
- SIFT 0.62
- Most common in the East Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available