R20L (p.Arg20Leu) variant of SLC12A1 (Q13621)
R20L (p.Arg20Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 15-48207778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.75
- MetaLR 0.78
- MetaSVM 0.83
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available