V44M (p.Val44Met) variant of CLDN14 (Claudin-14)
V44M (p.Val44Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs141139613
- ClinGen CA10019334
- ClinVar RCV002732081
- ClinVar RCV005242322
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.52
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)