Y47H (p.Tyr47His) variant of LRRK2 (Q5S007)
Y47H (p.Tyr47His) in LRRK2 (Q5S007) is a missense change. 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.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- gnomAD 12-40225270-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.06
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available