P8L (p.Pro8Leu) variant of SLC12A2 (P55011)
P8L (p.Pro8Leu) in SLC12A2 (P55011) 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 and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD rs1262237079
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available