S18L (p.Ser18Leu) variant of CALM1 (Calmodulin-1)
S18L (p.Ser18Leu) in CALM1 (Calmodulin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- ExAC rs778389067
- gnomAD rs778389067
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.55
- MetaLR 0.54
- MetaSVM 0.09
- CADD 24.50
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available