P66S (p.Pro66Ser) variant of DDC (P20711)
P66S (p.Pro66Ser) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- ExAC rs747387124
- gnomAD rs747387124
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.08
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available