M72T (p.Met72Thr) variant of CALM3 (Calmodulin-3)
M72T (p.Met72Thr) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
M72T (p.Met72Thr) variant details
- p.Met72Thr
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.75
- MetaLR 0.44
- MetaSVM -0.07
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available