H48L (p.His48Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
H48L (p.His48Leu) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
H48L (p.His48Leu) variant details
- p.His48Leu
- gnomAD X-124365766-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.40
- MetaLR 0.84
- MetaSVM 0.32
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Literature evidence available