P38Q (p.Pro38Gln) variant of SH2D1A (SH2 domain-containing protein 1A)
P38Q (p.Pro38Gln) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- gnomAD X-124346755-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.52
- MetaLR 0.69
- MetaSVM 0.44
- CADD 23.70
- PolyPhen-2 0.66
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available