G115E (p.Gly115Glu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G115E (p.Gly115Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G115E (p.Gly115Glu) variant details
- p.Gly115Glu
- rs574747070
- ClinGen CA6580885
- ClinVar RCV002794404
- 1000Genomes rs574747070
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.61
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.02
- 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)