M19I (p.Met19Ile) variant of KCNJ2 (P63252)
M19I (p.Met19Ile) in KCNJ2 (P63252) 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 0.41 / 1. The record also includes population frequency data and structural context.
M19I (p.Met19Ile) variant details
- p.Met19Ile
- cosmic curated COSV10503
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available