L55P (p.Leu55Pro) variant of ANKRD1 (Q15327)
L55P (p.Leu55Pro) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs1015674118
- ClinGen CA211425683
- ClinVar RCV003856875
- TOPMed rs1015674118
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.34
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)