R53W (p.Arg53Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
R53W (p.Arg53Trp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- rs776744207
- ClinGen CA6536083
- ClinVar RCV001041293
- ExAC rs776744207
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- CADD 29.20
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available