H75R (p.His75Arg) variant of VPS35 (Q96QK1)
H75R (p.His75Arg) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H75R (p.His75Arg) variant details
- p.His75Arg
- ExAC rs746848785
- gnomAD rs746848785
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available