P52R (p.Pro52Arg) variant of ANKRD1 (Q15327)
P52R (p.Pro52Arg) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs1443210840
- ClinGen CA377553587
- ClinVar RCV001962518
- gnomAD rs1443210840
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0798
- REVEL 0.07
- CADD 3.01
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)