P15L (p.Pro15Leu) variant of SLC12A1 (Q13621)
P15L (p.Pro15Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- gnomAD rs1191556534
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.29
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available