L37V (p.Leu37Val) variant of C2CD2L (O14523)
L37V (p.Leu37Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- gnomAD 11-119107850-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available