I131T (p.Ile131Thr) variant of CALM2 (Calmodulin-2)
I131T (p.Ile131Thr) in CALM2 (Calmodulin-2) 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 0.44 / 1. The record also includes population frequency data and structural context.
I131T (p.Ile131Thr) variant details
- p.Ile131Thr
- TOPMed rs1255299766
- gnomAD rs1255299766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.38
- MetaLR 0.20
- MetaSVM -0.71
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available