I391L (p.Ile391Leu) variant of CACNA1C (Q13936)
I391L (p.Ile391Leu) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
I391L (p.Ile391Leu) variant details
- p.Ile391Leu
- rs1051356
- UniProt VAR 045988
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.46
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance (in dbSNP:rs1051356)
- Most common in the Non-Finnish European population (allele frequency 9e-07)