I108M (p.Ile108Met) variant of KCNA2 (P16389)
I108M (p.Ile108Met) in KCNA2 (P16389) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I108M (p.Ile108Met) variant details
- p.Ile108Met
- rs765790719
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ExAC rs765790719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.42
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available