P123R (p.Pro123Arg) variant of VPS35 (Q96QK1)
P123R (p.Pro123Arg) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P123R (p.Pro123Arg) variant details
- p.Pro123Arg
- TOPMed rs1421508866
- gnomAD rs1421508866
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available