P65S (p.Pro65Ser) variant of SLC12A3 (P55017)
P65S (p.Pro65Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- gnomAD 16-56865428-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- MetaLR 0.99
- MetaSVM 0.99
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available