K14R (p.Lys14Arg) variant of CALM1 (Calmodulin-1)
K14R (p.Lys14Arg) in CALM1 (Calmodulin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- gnomAD rs1307543946
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.65
- MetaLR 0.68
- MetaSVM 0.48
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.41
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available