R20Q (p.Arg20Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
R20Q (p.Arg20Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs755340663
- ClinGen CA352750329
- ClinVar RCV002598391
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)