T21N (p.Thr21Asn) variant of PRKN (O60260)
T21N (p.Thr21Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T21N (p.Thr21Asn) variant details
- p.Thr21Asn
- 1000Genomes rs530092788
- ExAC rs530092788
- TOPMed rs530092788
- gnomAD rs530092788
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- MetaLR 0.33
- MetaSVM -0.55
- CADD 23.30
- PolyPhen-2 0.70
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.802