H48R (p.His48Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
H48R (p.His48Arg) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
H48R (p.His48Arg) variant details
- p.His48Arg
- gnomAD X-124365766-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- MetaLR 0.79
- MetaSVM 0.10
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Literature evidence available