T83A (p.Thr83Ala) variant of PRKN (O60260)
T83A (p.Thr83Ala) 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; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T83A (p.Thr83Ala) variant details
- p.Thr83Ala
- rs141825163
- ClinGen CA4090440
- ClinVar RCV001151479
- ClinVar RCV002032396
- Uncertain significance
- not provided; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.27
- MetaLR 0.18
- MetaSVM -0.85
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not provided; Autosomal recessive juvenile Parkinson disease 2;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.04
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)