G733A (p.Gly733Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G733A (p.Gly733Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome, arthrochalasia type, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
G733A (p.Gly733Ala) variant details
- p.Gly733Ala
- rs2115931844
- ClinGen CA368223452
- ClinVar RCV001808961
- Ensembl rs2115931844
- Likely pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.80
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, arthrochalasia type, 2)
- EBI: Likely pathogenic (in OI1)
- UniProt: Likely pathogenic (in OI1)
- Structural context available