R16Q (p.Arg16Gln) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R16Q (p.Arg16Gln) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs749556525
- ClinGen CA6580960
- ClinVar RCV003361751
- ExAC rs749556525
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.10
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)