G96W (p.Gly96Trp) variant of DDC (P20711)
G96W (p.Gly96Trp) 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 0.47 / 1. The record also includes structural context.
G96W (p.Gly96Trp) variant details
- p.Gly96Trp
- rs1285477390
- ClinGen CA367529575
- ClinVar RCV003994965
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.94
- MetaLR 0.30
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available