G636D (p.Gly636Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G636D (p.Gly636Asp) 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 COL2A1-related disorder; Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G636D (p.Gly636Asp) variant details
- p.Gly636Asp
- rs2136559202
- ClinGen CA384548990
- ClinVar RCV001596857
- Ensembl rs2136559202
- Likely pathogenic
- COL2A1-related disorder; Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (COL2A1-related disorder; Achondrogenesis type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available