H48Q (p.His48Gln) variant of SH2D1A (SH2 domain-containing protein 1A)
H48Q (p.His48Gln) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
H48Q (p.His48Gln) variant details
- p.His48Gln
- gnomAD X-124365767-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.31
- MetaLR 0.62
- MetaSVM -0.11
- CADD 4.16
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Literature evidence available