A40V (p.Ala40Val) variant of C2CD2L (O14523)
A40V (p.Ala40Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- gnomAD 11-119107860-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available