A92S (p.Ala92Ser) variant of VPS35 (Q96QK1)
A92S (p.Ala92Ser) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A92S (p.Ala92Ser) variant details
- p.Ala92Ser
- TOPMed rs1326491017
- gnomAD rs1326491017
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available