R63W (p.Arg63Trp) variant of KRT5 (Keratin, type II cytoskeletal 5)
R63W (p.Arg63Trp) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R63W (p.Arg63Trp) variant details
- p.Arg63Trp
- rs776667863
- ClinGen CA6582900
- NCI-TCGA Cosmic COSV9935
- ClinVar RCV000975479
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.51
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.0003)
- 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)