P35S (p.Pro35Ser) variant of DDC (P20711)
P35S (p.Pro35Ser) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- ExAC rs762044255
- TOPMed rs762044255
- gnomAD rs762044255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.72
- AlphaMissense 0.82
- MetaLR 0.72
- MetaSVM 0.57
- CADD 26.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available