F10L (p.Phe10Leu) variant of SLC12A1 (Q13621)
F10L (p.Phe10Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- 1000Genomes rs527699495
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.45
- MetaLR 0.66
- MetaSVM 0.56
- CADD 23.80
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available