H48N (p.His48Asn) variant of SH2D1A (SH2 domain-containing protein 1A)
H48N (p.His48Asn) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
H48N (p.His48Asn) variant details
- p.His48Asn
- gnomAD X-124365765-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- MetaLR 0.78
- MetaSVM 0.11
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Literature evidence available