T46M (p.Thr46Met) variant of LRRK2 (Q5S007)
T46M (p.Thr46Met) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs781394575
- ClinGen CA6512980
- cosmic curated COSV10515
- ClinVar RCV001903389
- Uncertain significance
- Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.98
- CADD 24.20
- PolyPhen-2 0.27
- SIFT 0.03
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)