L37F (p.Leu37Phe) variant of C2CD2L (O14523)
L37F (p.Leu37Phe) 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.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- gnomAD 11-119107852-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.03
- ESM-1b 0.25
- AlphaMissense 0.11
- CADD 24.20
- PolyPhen-2 0.45
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available