R127G (p.Arg127Gly) variant of CALM1 (Calmodulin-1)
R127G (p.Arg127Gly) in CALM1 (Calmodulin-1) 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 0.70 / 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 0.697
- REVEL 0.83
- MetaLR 0.49
- MetaSVM 0.03
- CADD 24.70
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
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