A44V (p.Ala44Val) variant of SPTBN4 (Q9H254)
A44V (p.Ala44Val) in SPTBN4 (Q9H254) 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, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD 19-40472752-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- MetaLR 0.64
- MetaSVM 0.34
- CADD 22.90
- PolyPhen-2 0.43
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available