P52A (p.Pro52Ala) variant of ANKRD1 (Q15327)
P52A (p.Pro52Ala) 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; Cardiomyopathy; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- rs397517248
- ClinGen CA5598832
- ClinVar RCV000250440
- ClinVar RCV000694428
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- CADD 6.72
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; ANKRD1-related dilated)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)