Y81H (p.Tyr81His) variant of SPTA1 (P02549)
Y81H (p.Tyr81His) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
Y81H (p.Tyr81His) variant details
- p.Tyr81His
- ExAC rs779796618
- TOPMed rs779796618
- gnomAD rs779796618
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.3e-05)