G822S (p.Gly822Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
G822S (p.Gly822Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G822S (p.Gly822Ser) variant details
- p.Gly822Ser
- rs794728051
- ClinGen CA005398
- ClinVar RCV000181096
- TOPMed rs794728051
- Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available