G42S (p.Gly42Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G42S (p.Gly42Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs201264698
- ClinGen CA6582918
- ClinVar RCV003000658
- ClinVar RCV005099003
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.30
- CADD 16.50
- PolyPhen-2 0.16
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)