A20E (p.Ala20Glu) variant of ANKRD1 (Q15327)
A20E (p.Ala20Glu) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- rs775935256
- ClinGen CA5598851
- ClinVar RCV003090215
- ExAC rs775935256
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)