R92K (p.Arg92Lys) variant of KRT2 (P35908)
R92K (p.Arg92Lys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R92K (p.Arg92Lys) variant details
- p.Arg92Lys
- rs1459622656
- ClinGen CA384944256
- NCI-TCGA Cosmic COSV5901
- ClinVar RCV004412227
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)