V60D (p.Val60Asp) variant of DDC (P20711)
V60D (p.Val60Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
V60D (p.Val60Asp) variant details
- p.Val60Asp
- ExAC rs770446305
- TOPMed rs770446305
- gnomAD rs770446305
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available