L58P (p.Leu58Pro) variant of SLC12A1 (Q13621)
L58P (p.Leu58Pro) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- gnomAD 15-48207892-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.49
- MetaLR 0.10
- MetaSVM -1.00
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available