T68K (p.Thr68Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
T68K (p.Thr68Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T68K (p.Thr68Lys) variant details
- p.Thr68Lys
- gnomAD X-124370177-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.68
- MetaLR 0.73
- MetaSVM 0.51
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available