H61R (p.His61Arg) variant of LRRK2 (Q5S007)
H61R (p.His61Arg) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H61R (p.His61Arg) variant details
- p.His61Arg
- rs762593111
- ClinGen CA6513012
- ClinVar RCV002509991
- ExAC rs762593111
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.68
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available