R106C (p.Arg106Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R106C (p.Arg106Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- rs146267259
- ClinGen CA5679496
- ClinVar RCV000402286
- ClinVar RCV001354311
- Uncertain significance
- not provided; Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Junctional epidermolysis bullosa, non-Herlitz type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)