I32L (p.Ile32Leu) variant of LRRK2 (Q5S007)
I32L (p.Ile32Leu) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I32L (p.Ile32Leu) variant details
- p.Ile32Leu
- rs757937882
- ClinGen CA384398543
- ClinVar RCV003049986
- ExAC rs757937882
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.04
- CADD 18.30
- SIFT 1.00
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)