D39E (p.Asp39Glu) variant of PRKN (O60260)
D39E (p.Asp39Glu) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- rs756595206
- ClinGen CA4090508
- ClinVar RCV001960349
- ClinVar RCV005271561
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- MetaLR 0.25
- MetaSVM -0.66
- CADD 18.90
- PolyPhen-2 0.31
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.502
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)