K89R (p.Lys89Arg) variant of CACNA1A (O00555)
K89R (p.Lys89Arg) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K89R (p.Lys89Arg) variant details
- p.Lys89Arg
- TOPMed rs1355490857
- gnomAD rs1355490857
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -1.10
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available