G49D (p.Gly49Asp) variant of SH2D1A (SH2 domain-containing protein 1A)
G49D (p.Gly49Asp) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- gnomAD X-124365769-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.69
- MetaLR 0.92
- MetaSVM 0.89
- CADD 24.90
- PolyPhen-2 0.75
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available