D68G (p.Asp68Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
D68G (p.Asp68Gly) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- rs376603102
- ClinGen CA004922
- ClinVar RCV000541054
- ClinVar RCV000709865
- Uncertain significance
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- MetaLR 0.22
- MetaSVM -0.66
- CADD 28.40
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)