V14L (p.Val14Leu) variant of SLC12A1 (Q13621)
V14L (p.Val14Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- gnomAD rs1487108450
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.59
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available