R123W (p.Arg123Trp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R123W (p.Arg123Trp) 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 Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
R123W (p.Arg123Trp) variant details
- p.Arg123Trp
- rs1307900387
- ClinGen CA378080353
- cosmic curated COSV62225
- ClinVar RCV001106003
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa, non-Herlitz type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)