T21I (p.Thr21Ile) variant of PRKN (O60260)
T21I (p.Thr21Ile) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- 1000Genomes rs530092788
- ExAC rs530092788
- TOPMed rs530092788
- gnomAD rs530092788
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- MetaLR 0.33
- MetaSVM -0.49
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.802