A2A (p.Ala2Ala) variant of CALM3 (Calmodulin-3)
A2A (p.Ala2Ala) in CALM3 (Calmodulin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1971731490
- gnomAD 19-46605829-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available