K27T (p.Lys27Thr) variant of PRKN (O60260)
K27T (p.Lys27Thr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K27T (p.Lys27Thr) variant details
- p.Lys27Thr
- rs1562768845
- ClinGen CA366477359
- ClinVar RCV003075264
- TOPMed rs1562768845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- MetaLR 0.90
- MetaSVM 1.04
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0201