I69T (p.Ile69Thr) variant of PRKN (O60260)
I69T (p.Ile69Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- gnomAD rs1410734761
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.50
- MetaLR 0.70
- MetaSVM 0.10
- CADD 19.10
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0277