C13R (p.Cys13Arg) variant of CD3E (P07766)
C13R (p.Cys13Arg) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- gnomAD 11-118304989-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.68
- CADD 24.90
- PolyPhen-2 0.69
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available