S37C (p.Ser37Cys) variant of SPTA1 (P02549)
S37C (p.Ser37Cys) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- ExAC rs776791339
- gnomAD rs776791339
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)