L74H (p.Leu74His) variant of SLC12A1 (Q13621)
L74H (p.Leu74His) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L74H (p.Leu74His) variant details
- p.Leu74His
- gnomAD 15-48207940-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.38
- MetaLR 0.09
- MetaSVM -0.98
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available