T61K (p.Thr61Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
T61K (p.Thr61Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
T61K (p.Thr61Lys) variant details
- p.Thr61Lys
- gnomAD X-124365805-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- MetaLR 0.84
- MetaSVM 0.90
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.83
- Population evidence available
- Literature evidence available