N106D (p.Asn106Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
N106D (p.Asn106Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N106D (p.Asn106Asp) variant details
- p.Asn106Asp
- rs1449512324
- ClinGen CA349867290
- ClinVar RCV000509254
- TOPMed rs1449512324
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.22
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)