M72V (p.Met72Val) variant of LRRK2 (Q5S007)
M72V (p.Met72Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M72V (p.Met72Val) variant details
- p.Met72Val
- rs1940833888
- ClinGen CA384399367
- ClinVar RCV002432423
- ClinVar RCV003098661
- Uncertain significance
- Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.35
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8; Inborn genetic diseases)
- 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)