G339D (p.Gly339Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G339D (p.Gly339Asp) 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; Kniest dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G339D (p.Gly339Asp) variant details
- p.Gly339Asp
- rs2136604676
- ClinGen CA384555610
- cosmic curated COSV10742
- ClinVar RCV001379830
- Pathogenic/Likely pathogenic
- not provided; Kniest dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Kniest dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available