W29R (p.Trp29Arg) variant of C2CD2L (O14523)
W29R (p.Trp29Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W29R (p.Trp29Arg) variant details
- p.Trp29Arg
- gnomAD 11-119107826-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- ESM-1b 0.76
- AlphaMissense 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available