G447D (p.Gly447Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G447D (p.Gly447Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G447D (p.Gly447Asp) variant details
- p.Gly447Asp
- rs886043561
- ClinGen CA10605662
- ClinVar RCV000284452
- Ensembl rs886043561
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Structural context available