S27R (p.Ser27Arg) variant of SPTBN4 (Q9H254)
S27R (p.Ser27Arg) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD rs747825078
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 14.80
- PolyPhen-2 0.96
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)