R13Q (p.Arg13Gln) variant of KRT4 (Keratin, type II cytoskeletal 4)
R13Q (p.Arg13Gln) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs367746866
- ClinGen CA6588859
- ClinVar RCV004412400
- ESP rs367746866
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- CADD 8.20
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)