A103T (p.Ala103Thr) variant of CALM3 (Calmodulin-3)
A103T (p.Ala103Thr) 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 0.70 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- rs147880865
- ClinGen CA9529818
- ClinVar RCV001757345
- ESP rs147880865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.73
- MetaLR 0.53
- MetaSVM 0.13
- CADD 24.60
- PolyPhen-2 0.18
- SIFT 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CPVT6)
- UniProt: Uncertain significance (in CPVT6)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available