L49P (p.Leu49Pro) variant of ANKRD1 (Q15327)
L49P (p.Leu49Pro) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- ESP rs145358212
- TOPMed rs145358212
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available