I88V (p.Ile88Val) variant of KCNA2 (P16389)
I88V (p.Ile88Val) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- TOPMed rs1161306229
- gnomAD rs1161306229
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 0.79
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available