H48Y (p.His48Tyr) variant of SH2D1A (SH2 domain-containing protein 1A)
H48Y (p.His48Tyr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- gnomAD X-124365765-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.39
- MetaLR 0.87
- MetaSVM 0.51
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Literature evidence available