L44V (p.Leu44Val) variant of ANK2 (Ankyrin-2)
L44V (p.Leu44Val) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs145272651
- ClinGen CA3049938
- cosmic curated COSV10000
- ClinVar RCV000250584
- Benign/Likely benign
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.19
- CADD 19.40
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.21
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)