P50S (p.Pro50Ser) variant of DDC (P20711)
P50S (p.Pro50Ser) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- ExAC rs750489818
- gnomAD rs750489818
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available