P42L (p.Pro42Leu) variant of SLC12A1 (Q13621)
P42L (p.Pro42Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- ExAC rs760852272
- TOPMed rs760852272
- gnomAD rs760852272
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.49
- MetaLR 0.55
- MetaSVM 0.16
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available