Q50R (p.Gln50Arg) variant of CALM1 (Calmodulin-1)
Q50R (p.Gln50Arg) in CALM1 (Calmodulin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- ExAC rs11551450
- gnomAD rs11551450
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.51
- MetaLR 0.49
- MetaSVM 0.03
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available