G84S (p.Gly84Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G84S (p.Gly84Ser) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G84S (p.Gly84Ser) variant details
- p.Gly84Ser
- rs1431332736
- ClinGen CA384928097
- ClinVar RCV004414422
- TOPMed rs1431332736
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)