M72T (p.Met72Thr) variant of LRRK2 (Q5S007)
M72T (p.Met72Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M72T (p.Met72Thr) variant details
- p.Met72Thr
- rs750946093
- ClinGen CA6513017
- ClinVar RCV001109927
- ExAC rs750946093
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.03
- SIFT 0.00
- EVE 0.23
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)