P64L (p.Pro64Leu) variant of SLC12A1 (Q13621)
P64L (p.Pro64Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- gnomAD 15-48207910-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.36
- MetaLR 0.50
- MetaSVM -0.32
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available