V17A (p.Val17Ala) variant of SPTA1 (P02549)
V17A (p.Val17Ala) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- ExAC rs748768867
- gnomAD rs748768867
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 24.20
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)