G303D (p.Gly303Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G303D (p.Gly303Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stickler syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G303D (p.Gly303Asp) variant details
- p.Gly303Asp
- rs121912877
- ClinGen CA127160
- ClinVar RCV000018914
- ClinVar RCV000724305
- Pathogenic
- Stickler syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Stickler syndrome; not provided)
- EBI: Pathogenic (in KD)
- UniProt: Pathogenic (in KD)
- Structural context available
- Cited in: A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. (PMID 7874117)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)