A2S (p.Ala2Ser) variant of CALM3 (Calmodulin-3)
A2S (p.Ala2Ser) in CALM3 (Calmodulin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 19-46605827-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.23
- MetaLR 0.09
- MetaSVM -1.06
- CADD 27.50
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available