A327V (p.Ala327Val) variant of SLC12A2 (P55011)
A327V (p.Ala327Val) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Delpire-McNeill syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A327V (p.Ala327Val) variant details
- p.Ala327Val
- rs1761279419
- ClinGen CA360738517
- ClinVar RCV001264773
- UniProt VAR 085083
- Pathogenic
- Delpire-McNeill syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Delpire-McNeill syndrome)
- EBI: Pathogenic (in DELMNES)
- UniProt: Pathogenic (in DELMNES)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. (PMID 32658972)