G344D (p.Gly344Asp) variant of SETD5 (Q9C0A6)
G344D (p.Gly344Asp) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G344D (p.Gly344Asp) variant details
- p.Gly344Asp
- rs1268639896
- ClinGen CA351689496
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Pathogenic/Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available