G612A (p.Gly612Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
G612A (p.Gly612Ala) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar 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 0.87 / 1. The record also includes population frequency data and structural context.
G612A (p.Gly612Ala) variant details
- p.Gly612Ala
- ExAC rs779858998
- TOPMed rs779858998
- gnomAD rs779858998
- Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available