R51W (p.Arg51Trp) variant of SPTBN4 (Q9H254)
R51W (p.Arg51Trp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- Ensembl rs2079900977
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00017)
- Structural context available