G1053A (p.Gly1053Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G1053A (p.Gly1053Ala) 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 not provided; Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G1053A (p.Gly1053Ala) variant details
- p.Gly1053Ala
- rs121912868
- ClinGen CA384540507
- ClinVar RCV004555254
- ClinVar RCV005100822
- Likely pathogenic
- not provided; Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided; Achondrogenesis type II)
- EBI: Likely pathogenic (in hypochondrogenesis)
- UniProt: Likely pathogenic (in hypochondrogenesis)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)