A104V (p.Ala104Val) variant of CALM3 (Calmodulin-3)
A104V (p.Ala104Val) 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 0.39 / 1. The record also includes population frequency data and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- rs11551437
- ClinGen CA46690850
- ClinVar RCV002320471
- Ensembl rs11551437
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.81
- MetaLR 0.26
- MetaSVM -0.58
- SIFT 0.00
- MutPred 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available