I101V (p.Ile101Val) variant of CALM3 (Calmodulin-3)
I101V (p.Ile101Val) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- rs1595102592
- ClinGen CA390690134
- ClinVar RCV000798107
- Ensembl rs1595102592
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.52
- MetaLR 0.39
- MetaSVM -0.21
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)