Y30C (p.Tyr30Cys) variant of DDC (P20711)
Y30C (p.Tyr30Cys) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- TOPMed rs904936999
- gnomAD rs904936999
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- CADD 24.90
- PolyPhen-2 0.54
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available