I28V (p.Ile28Val) variant of CALM3 (Calmodulin-3)
I28V (p.Ile28Val) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs763100441
- NCI-TCGA Cosmic COSV5219
- cosmic curated COSV52195
- ExAC rs763100441
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.59
- MetaLR 0.60
- MetaSVM 0.29
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available