G39R (p.Gly39Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
G39R (p.Gly39Arg) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs146136560
- ClinGen CA6582924
- ClinVar RCV000268669
- ClinVar RCV002522235
- Conflicting interpretations
- Inborn genetic diseases; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- CADD 2.58
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Epidermolysis bullosa simplex)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)