T59K (p.Thr59Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
T59K (p.Thr59Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T59K (p.Thr59Lys) variant details
- p.Thr59Lys
- gnomAD X-124365799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.52
- MetaLR 0.55
- MetaSVM -0.02
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available