V14A (p.Val14Ala) variant of SLC12A1 (Q13621)
V14A (p.Val14Ala) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- ExAC rs754371455
- gnomAD rs754371455
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.24
- MetaLR 0.43
- MetaSVM -0.68
- CADD 5.23
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available