S85L (p.Ser85Leu) variant of DDC (P20711)
S85L (p.Ser85Leu) in DDC (P20711) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S85L (p.Ser85Leu) variant details
- p.Ser85Leu
- rs764694805
- ExAC rs764694805
- TOPMed rs764694805
- gnomAD rs764694805
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.73
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available