R3S (p.Arg3Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
R3S (p.Arg3Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs898585011
- ClinGen CA236497909
- ClinVar RCV003665208
- TOPMed rs898585011
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available