L3M (p.Leu3Met) variant of SLC12A1 (Q13621)
L3M (p.Leu3Met) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 15-48207726-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.26
- MetaLR 0.38
- MetaSVM -0.71
- CADD 5.54
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available