M80I (p.Met80Ile) variant of PRKN (O60260)
M80I (p.Met80Ile) in PRKN (O60260) 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 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- rs1378447280
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- gnomAD rs1378447280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.72
- CADD 1.94
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.988