Q21R (p.Gln21Arg) variant of VPS35 (Q96QK1)
Q21R (p.Gln21Arg) 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.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- TOPMed rs1192520905
- gnomAD rs1192520905
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available