R31W (p.Arg31Trp) variant of CLDN14 (Claudin-14)
R31W (p.Arg31Trp) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs757426764
- ClinGen CA10019345
- ClinVar RCV003152079
- ClinVar RCV006342921
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.40
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; 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)