G116D (p.Gly116Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G116D (p.Gly116Asp) 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; Palmoplantar keratoderma, epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G116D (p.Gly116Asp) variant details
- p.Gly116Asp
- rs746202552
- ClinGen CA8562260
- ClinVar RCV001126936
- ClinVar RCV004986827
- Uncertain significance
- Inborn genetic diseases; Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Palmoplantar keratoderma, epidermolytic)
- 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)