P52S (p.Pro52Ser) variant of ANKRD1 (Q15327)
P52S (p.Pro52Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- rs397517248
- ClinGen CA136823
- ClinVar RCV000038844
- ClinVar RCV002399382
- Conflicting interpretations
- Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; ANKRD1-related dilated)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)