T53A (p.Thr53Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
T53A (p.Thr53Ala) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- gnomAD X-124365780-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.79
- MetaLR 0.81
- MetaSVM 0.71
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available