R1303Q (p.Arg1303Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R1303Q (p.Arg1303Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epithelial recurrent erosion dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
R1303Q (p.Arg1303Gln) variant details
- p.Arg1303Gln
- rs121912771
- ClinGen CA127324
- cosmic curated COSV10021
- ClinVar RCV001781284
- Pathogenic/Likely pathogenic
- Epithelial recurrent erosion dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 15.10
- PolyPhen-2 0.14
- SIFT 0.43
- ClinVar: Pathogenic/Likely pathogenic (Epithelial recurrent erosion dystrophy; not provided)
- EBI: Pathogenic (in JEB4)
- UniProt: Pathogenic (in JEB4)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Cited in: Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical… (PMID 9199555)
- Cited in: Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. (PMID 10652291)