G88R (p.Gly88Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G88R (p.Gly88Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G88R (p.Gly88Arg) variant details
- p.Gly88Arg
- rs201156103
- ClinGen CA6582310
- ClinVar RCV004414411
- 1000Genomes rs201156103
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)