R27L (p.Arg27Leu) variant of DDC (P20711)
R27L (p.Arg27Leu) 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.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- ExAC rs781573378
- TOPMed rs781573378
- gnomAD rs781573378
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.38
- CADD 25.50
- PolyPhen-2 0.54
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available