R107H (p.Arg107His) variant of CALM1 (Calmodulin-1)
R107H (p.Arg107His) 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 0.79 / 1. The record also includes population frequency data and structural context.
R107H (p.Arg107His) variant details
- p.Arg107His
- rs1398867574
- ClinGen CA406473073
- NCI-TCGA Cosmic COSV5219
- cosmic curated COSV52194
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.83
- MetaLR 0.78
- MetaSVM 0.68
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available