D76V (p.Asp76Val) variant of CDC42 (P60953)
D76V (p.Asp76Val) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
D76V (p.Asp76Val) variant details
- p.Asp76Val
- rs1645663483
- ClinGen CA338906764
- ClinVar RCV003458288
- Likely pathogenic
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.74
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.57
- ClinVar: Likely pathogenic (Macrothrombocytopenia-lymphedema-developmental delay-facial dysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available