E2V (p.Glu2Val) variant of SPTA1 (P02549)
E2V (p.Glu2Val) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- ExAC rs750427416
- gnomAD rs750427416
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)