R226H (p.Arg226His) variant of VPS35 (Q96QK1)
R226H (p.Arg226His) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R226H (p.Arg226His) variant details
- p.Arg226His
- gnomAD rs1419045650
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.67
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available