G58V (p.Gly58Val) variant of SETD2 (Q9BYW2)
G58V (p.Gly58Val) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- rs2043245559
- ClinGen CA352538347
- ClinVar RCV001528139
- Ensembl rs2043245559
- Uncertain significance
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)