Y83S (p.Tyr83Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
Y83S (p.Tyr83Ser) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Y83S (p.Tyr83Ser) variant details
- p.Tyr83Ser
- rs1468180571
- ClinGen CA384928102
- ClinVar RCV002743047
- TOPMed rs1468180571
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)