A66T (p.Ala66Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
A66T (p.Ala66Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- gnomAD X-124365819-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.73
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.40
- PolyPhen-2 0.89
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available