T34R (p.Thr34Arg) variant of LRRK2 (Q5S007)
T34R (p.Thr34Arg) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- gnomAD 12-40225232-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.74
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available