R107H (p.Arg107His) variant of CALM3 (Calmodulin-3)
R107H (p.Arg107His) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 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
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.86
- MetaLR 0.76
- MetaSVM 0.68
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available