R86W (p.Arg86Trp) variant of KRT5 (Keratin, type II cytoskeletal 5)
R86W (p.Arg86Trp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs373163099
- ClinGen CA6582888
- ClinVar RCV003086465
- ClinVar RCV004073197
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.15
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)