L58F (p.Leu58Phe) variant of SLC12A1 (Q13621)
L58F (p.Leu58Phe) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- TOPMed rs959913904
- gnomAD rs959913904
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.15
- MetaLR 0.37
- MetaSVM -0.62
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available