A26V (p.Ala26Val) variant of SLC12A2 (P55011)
A26V (p.Ala26Val) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- Ensembl rs1759931261
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available