E29D (p.Glu29Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
E29D (p.Glu29Asp) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- rs760482912
- ClinGen CA077021
- ClinVar RCV001176571
- ClinVar RCV002558824
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.69
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)