G47R (p.Gly47Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
G47R (p.Gly47Arg) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Epidermolysis bullosa simplex 1A, generalized severe; D. 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.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs374429058
- ClinGen CA8562808
- ClinVar RCV002951865
- ClinVar RCV005399199
- Uncertain significance
- Inborn genetic diseases; Epidermolysis bullosa simplex 1A, generalized severe; D
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.45
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Epidermolysis bullosa simplex 1A, gener)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)