T15S (p.Thr15Ser) variant of LRRK2 (Q5S007)
T15S (p.Thr15Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T15S (p.Thr15Ser) variant details
- p.Thr15Ser
- ExAC rs767521458
- TOPMed rs767521458
- gnomAD rs767521458
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.01
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available