D86G (p.Asp86Gly) variant of ANKRD1 (Q15327)
D86G (p.Asp86Gly) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- ExAC rs759101459
- gnomAD rs759101459
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.42
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available