I20T (p.Ile20Thr) variant of LRRK2 (Q5S007)
I20T (p.Ile20Thr) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- gnomAD 12-40225190-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available