D32G (p.Asp32Gly) variant of CLCN5 (P51795)
D32G (p.Asp32Gly) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CLCN5-related disorder. 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.
D32G (p.Asp32Gly) variant details
- p.Asp32Gly
- rs202230774
- ClinGen CA10413680
- ClinVar RCV003956659
- ESP rs202230774
- Benign
- CLCN5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.38
- MetaLR 0.58
- MetaSVM 0.05
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Benign (CLCN5-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.011)
- Structural context available