I32V (p.Ile32Val) variant of LRRK2 (Q5S007)
I32V (p.Ile32Val) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- ExAC rs757937882
- TOPMed rs757937882
- gnomAD rs757937882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available