G34D (p.Gly34Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
G34D (p.Gly34Asp) in KRT17 (Keratin, type I cytoskeletal 17) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- rs368662815
- ClinGen CA8563849
- ClinVar RCV004412204
- ClinVar RCV004780708
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.25
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)