R437W (p.Arg437Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
R437W (p.Arg437Trp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Paediatric disorders; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R437W (p.Arg437Trp) variant details
- p.Arg437Trp
- rs917659377
- ClinGen CA236527947
- cosmic curated COSV61529
- ClinVar RCV001596899
- Likely pathogenic
- Paediatric disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Paediatric disorders; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available