D63V (p.Asp63Val) variant of SPTA1 (P02549)
D63V (p.Asp63Val) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
D63V (p.Asp63Val) variant details
- p.Asp63Val
- Ensembl rs2101958128
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)