V36I (p.Val36Ile) variant of PRKN (O60260)
V36I (p.Val36Ile) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- cosmic curated COSV10591
- TOPMed rs1468779980
- gnomAD rs1468779980
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.23
- MetaLR 0.29
- MetaSVM -0.68
- CADD 23.30
- PolyPhen-2 0.86
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.533