R35P (p.Arg35Pro) variant of C2CD2L (O14523)
R35P (p.Arg35Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- gnomAD 11-119107845-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 29.70
- PolyPhen-2 0.89
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available