Q28R (p.Gln28Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
Q28R (p.Gln28Arg) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- rs536680291
- ClinGen CA384977016
- ClinVar RCV003219671
- 1000Genomes rs536680291
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.12
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)