G18A (p.Gly18Ala) variant of ANKRD1 (Q15327)
G18A (p.Gly18Ala) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs756262750
- ClinGen CA5598852
- ClinVar RCV002347259
- ClinVar RCV006470831
- Uncertain significance
- Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 7.30
- PolyPhen-2 0.02
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)