R22P (p.Arg22Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
R22P (p.Arg22Pro) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- TOPMed rs1565702485
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.58
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available