A42V (p.Ala42Val) variant of SPTBN4 (Q9H254)
A42V (p.Ala42Val) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD 19-40472746-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- MetaLR 0.30
- MetaSVM -0.39
- CADD 15.10
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available