D6G (p.Asp6Gly) variant of ACTA2 (Actin, aortic smooth muscle)
D6G (p.Asp6Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- rs1064796603
- ClinGen CA16619079
- ClinVar RCV000487316
- TOPMed rs1064796603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.70
- CADD 26.70
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available