N94D (p.Asn94Asp) variant of ACTA2 (Actin, aortic smooth muscle)
N94D (p.Asn94Asp) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N94D (p.Asn94Asp) variant details
- p.Asn94Asp
- rs778382397
- ClinGen CA027301
- ClinVar RCV002949360
- ExAC rs778382397
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.85
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)