G325V (p.Gly325Val) variant of SHANK3 (Q9BYB0)
G325V (p.Gly325Val) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phelan-McDermid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
G325V (p.Gly325Val) variant details
- p.Gly325Val
- rs747755749
- ClinGen CA515254128
- ClinVar RCV002290387
- Uncertain significance
- Phelan-McDermid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.97
- MetaLR 0.45
- MetaSVM -0.03
- MutPred 0.66
- ClinVar: Uncertain significance (Phelan-McDermid syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phelan-McDermid Syndrome-SHANK3 Related. (PMID 20301377)