R127G (p.Arg127Gly) variant of CALM3 (Calmodulin-3)
R127G (p.Arg127Gly) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs775065505
- ClinGen CA1648541
- ClinVar RCV002234997
- ExAC rs775065505
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.56
- MetaLR 0.34
- MetaSVM -0.42
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
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