W47R (p.Trp47Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
W47R (p.Trp47Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
W47R (p.Trp47Arg) variant details
- p.Trp47Arg
- rs1064793352
- ClinGen CA16619531
- ClinVar RCV000483696
- Ensembl rs1064793352
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available