D9V (p.Asp9Val) variant of SPTBN4 (Q9H254)
D9V (p.Asp9Val) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
D9V (p.Asp9Val) variant details
- p.Asp9Val
- ExAC rs774383165
- gnomAD rs774383165
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available