V21A (p.Val21Ala) variant of CLDN10 (Claudin-10)
V21A (p.Val21Ala) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs1157773336
- ClinGen CA388478027
- ClinVar RCV002759868
- TOPMed rs1157773336
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- CADD 24.50
- PolyPhen-2 0.34
- SIFT 0.02
- 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)