S63P (p.Ser63Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
S63P (p.Ser63Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S63P (p.Ser63Pro) variant details
- p.Ser63Pro
- gnomAD X-124365810-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.77
- MetaLR 0.95
- MetaSVM 1.01
- CADD 24.50
- PolyPhen-2 0.89
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available