H94Y (p.His94Tyr) variant of SPTA1 (P02549)
H94Y (p.His94Tyr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
H94Y (p.His94Tyr) variant details
- p.His94Tyr
- gnomAD rs1474509932
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)