R31Q (p.Arg31Gln) variant of CLDN14 (Claudin-14)
R31Q (p.Arg31Gln) in CLDN14 (Claudin-14) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1041031415
- ClinGen CA320314382
- ClinVar RCV002679508
- TOPMed rs1041031415
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.38
- CADD 17.30
- PolyPhen-2 0.12
- SIFT 0.18
- 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)