D59Y (p.Asp59Tyr) variant of DDC (P20711)
D59Y (p.Asp59Tyr) 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 0.60 / 1. The record also includes structural context.
D59Y (p.Asp59Tyr) variant details
- p.Asp59Tyr
- rs931702374
- ClinGen CA367531458
- NCI-TCGA Cosmic COSV6356
- ClinVar RCV003994964
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.92
- MetaLR 0.46
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available