V30D (p.Val30Asp) variant of PRKN (O60260)
V30D (p.Val30Asp) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V30D (p.Val30Asp) variant details
- p.Val30Asp
- ExAC rs745697155
- gnomAD rs745697155
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.86
- MetaLR 0.61
- MetaSVM 0.40
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0257