T15A (p.Thr15Ala) variant of LRRK2 (Q5S007)
T15A (p.Thr15Ala) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- ExAC rs767521458
- TOPMed rs767521458
- gnomAD rs767521458
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.01
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available