G108R (p.Gly108Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
G108R (p.Gly108Arg) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.47 / 1. The record also includes population frequency data and published literature.
G108R (p.Gly108Arg) variant details
- p.Gly108Arg
- rs774951544
- ClinGen CA8548318
- ClinVar RCV002809760
- ClinVar RCV005059292
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- CADD 19.60
- PolyPhen-2 0.99
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)