S56P (p.Ser56Pro) variant of VPS35 (Q96QK1)
S56P (p.Ser56Pro) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S56P (p.Ser56Pro) variant details
- p.Ser56Pro
- gnomAD rs1469288470
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.56
- CADD 24.80
- PolyPhen-2 0.73
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available