L45V (p.Leu45Val) variant of ANKRD1 (Q15327)
L45V (p.Leu45Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs372030578
- ClinGen CA5598834
- ClinVar RCV000852626
- ClinVar RCV001811508
- Conflicting interpretations
- not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.11
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00038)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)