V42A (p.Val42Ala) variant of SPTA1 (P02549)
V42A (p.Val42Ala) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
V42A (p.Val42Ala) variant details
- p.Val42Ala
- TOPMed rs1382500308
- gnomAD rs1382500308
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)