L74F (p.Leu74Phe) variant of SLC12A1 (Q13621)
L74F (p.Leu74Phe) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L74F (p.Leu74Phe) variant details
- p.Leu74Phe
- gnomAD rs1422768026
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- MetaLR 0.60
- MetaSVM 0.14
- CADD 16.10
- PolyPhen-2 0.11
- SIFT 0.34
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available