P31H (p.Pro31His) variant of SLC12A3 (P55017)
P31H (p.Pro31His) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- ExAC rs750850762
- gnomAD rs750850762
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 8.28
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available