S62R (p.Ser62Arg) variant of VPS35 (Q96QK1)
S62R (p.Ser62Arg) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- gnomAD rs1256556517
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.30
- CADD 23.00
- PolyPhen-2 0.93
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available