A51S (p.Ala51Ser) variant of LRRK2 (Q5S007)
A51S (p.Ala51Ser) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- gnomAD 12-40225282-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.85
- CADD 35.00
- PolyPhen-2 0.68
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available