P70T (p.Pro70Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
P70T (p.Pro70Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- gnomAD X-124370182-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.62
- MetaLR 0.75
- MetaSVM 0.59
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available