K61E (p.Lys61Glu) variant of ANKRD1 (Q15327)
K61E (p.Lys61Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K61E (p.Lys61Glu) variant details
- p.Lys61Glu
- rs775086759
- ClinGen CA5598827
- ClinVar RCV000498944
- ClinVar RCV003766806
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0969
- REVEL 0.06
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)