P74R (p.Pro74Arg) variant of DDC (P20711)
P74R (p.Pro74Arg) 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 0.81 / 1. The record also includes population frequency data and structural context.
P74R (p.Pro74Arg) variant details
- p.Pro74Arg
- TOPMed rs1045841207
- gnomAD rs1045841207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available