A89V (p.Ala89Val) variant of CALM3 (Calmodulin-3)
A89V (p.Ala89Val) in CALM3 (Calmodulin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- ExAC rs756526606
- gnomAD rs756526606
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.81
- MetaLR 0.71
- MetaSVM 0.53
- CADD 25.00
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available