R86Q (p.Arg86Gln) variant of KRT5 (Keratin, type II cytoskeletal 5)
R86Q (p.Arg86Gln) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs762047842
- ClinGen CA6582886
- ClinVar RCV002683564
- ExAC rs762047842
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (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)