L31M (p.Leu31Met) variant of C2CD2L (O14523)
L31M (p.Leu31Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- gnomAD 11-119107832-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available