V25A (p.Val25Ala) variant of SLC12A1 (Q13621)
V25A (p.Val25Ala) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- TOPMed rs1362910374
- gnomAD rs1362910374
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- MetaLR 0.52
- MetaSVM 0.07
- CADD 21.70
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available