A46T (p.Ala46Thr) variant of PRKN (O60260)
A46T (p.Ala46Thr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs75860381
- ClinGen CA4090502
- cosmic curated COSV99080
- ClinVar RCV000534302
- Benign/Likely benign
- Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.67
- MetaLR 0.53
- MetaSVM 0.10
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Benign/Likely benign (Autosomal recessive juvenile Parkinson disease 2; Ovarian neopla)
- EBI: Benign (in PARK2)
- UniProt: Benign (in PARK2)
- Most common in the 1KG:YRI population (allele frequency 0.043)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.619
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)