G930D (p.Gly930Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G930D (p.Gly930Asp) 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 Inborn genetic diseases; Fetal anomalies with a likely genetic cause. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G930D (p.Gly930Asp) variant details
- p.Gly930Asp
- rs1555165501
- ClinGen CA384542333
- ClinVar RCV000622409
- Ensembl rs1555165501
- Likely pathogenic
- Inborn genetic diseases; Fetal anomalies with a likely genetic cause
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.81
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Inborn genetic diseases; Fetal anomalies with a likely genetic c)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)