M52I (p.Met52Ile) variant of CLDN14 (Claudin-14)
M52I (p.Met52Ile) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M52I (p.Met52Ile) variant details
- p.Met52Ile
- rs1481757019
- ClinGen CA409883789
- ClinVar RCV002265361
- ClinVar RCV005542740
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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)