R16W (p.Arg16Trp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R16W (p.Arg16Trp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs767267061
- ClinGen CA6582355
- NCI-TCGA Cosmic COSV5810
- ClinVar RCV002714703
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.32
- CADD 19.70
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)