A43S (p.Ala43Ser) variant of CLDN10 (Claudin-10)
A43S (p.Ala43Ser) in CLDN10 (Claudin-10) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- rs747253181
- ClinGen CA7020109
- ClinVar RCV004444298
- ExAC rs747253181
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)