Y47F (p.Tyr47Phe) variant of SH2D1A (SH2 domain-containing protein 1A)
Y47F (p.Tyr47Phe) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y47F (p.Tyr47Phe) variant details
- p.Tyr47Phe
- gnomAD X-124365763-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.27
- MetaLR 0.34
- MetaSVM -0.81
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available