Y71H (p.Tyr71His) variant of LRRK2 (Q5S007)
Y71H (p.Tyr71His) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y71H (p.Tyr71His) variant details
- p.Tyr71His
- gnomAD 12-40225614-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -0.81
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available