G666S (p.Gly666Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
G666S (p.Gly666Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G666S (p.Gly666Ser) variant details
- p.Gly666Ser
- rs755528878
- ClinGen CA074898
- ClinVar RCV000792990
- ClinVar RCV002422679
- Pathogenic/Likely pathogenic
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Pathogenic (in EDSVASC)
- UniProt: Pathogenic (in EDSVASC)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)