V64A (p.Val64Ala) variant of SLC12A3 (P55017)
V64A (p.Val64Ala) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- gnomAD 16-56865426-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- MetaLR 0.81
- MetaSVM 0.54
- CADD 19.40
- PolyPhen-2 0.05
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available