A50T (p.Ala50Thr) variant of CLCN1 (Chloride channel protein 1)
A50T (p.Ala50Thr) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs762996741
- ClinGen CA4536832
- ClinVar RCV002728154
- ExAC rs762996741
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.18
- CADD 0.53
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)