V9A (p.Val9Ala) variant of SLC12A1 (Q13621)
V9A (p.Val9Ala) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs764642727
- ClinGen CA7546678
- ClinVar RCV001365018
- ExAC rs764642727
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.16
- MetaLR 0.48
- MetaSVM -0.49
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0044)
- Structural context available