Y50H (p.Tyr50His) variant of SH2D1A (SH2 domain-containing protein 1A)
Y50H (p.Tyr50His) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- gnomAD X-124365771-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- MetaLR 0.47
- MetaSVM -0.28
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available