S22I (p.Ser22Ile) variant of PRKN (O60260)
S22I (p.Ser22Ile) 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 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- NCI-TCGA Cosmic COSV5828
- cosmic curated COSV58280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.66
- MetaLR 0.44
- MetaSVM -0.29
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.931