V10M (p.Val10Met) variant of C2CD2L (O14523)
V10M (p.Val10Met) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- gnomAD 11-119107769-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.80
- PolyPhen-2 0.79
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available