W64R (p.Trp64Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
W64R (p.Trp64Arg) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W64R (p.Trp64Arg) variant details
- p.Trp64Arg
- gnomAD X-124365813-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.86
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.30
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available