P42R (p.Pro42Arg) variant of SLC12A3 (P55017)
P42R (p.Pro42Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- ExAC rs777453931
- gnomAD rs777453931
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available