G76E (p.Gly76Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G76E (p.Gly76Glu) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G76E (p.Gly76Glu) variant details
- p.Gly76Glu
- rs2508722337
- ClinGen CA399503016
- ClinVar RCV003212733
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.42
- CADD 10.10
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)