P105L (p.Pro105Leu) variant of ANKRD1 (Q15327)
P105L (p.Pro105Leu) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P105L (p.Pro105Leu) variant details
- p.Pro105Leu
- rs1847405739
- ClinGen CA377552460
- ClinVar RCV001946243
- TOPMed rs1847405739
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.16
- 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 4.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)