D41Y (p.Asp41Tyr) variant of LRRK2 (Q5S007)
D41Y (p.Asp41Tyr) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of ischemic cerebrovascular diesease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- TOPMed rs1422672946
- Uncertain significance
- ischemic cerebrovascular diesease
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.43
- MetaLR 0.26
- MetaSVM -0.56
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (ischemic cerebrovascular diesease)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available