G19V (p.Gly19Val) variant of SUFU (Suppressor of fused homolog)
G19V (p.Gly19Val) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs1589969913
- ClinGen CA377886286
- ClinVar RCV003464659
- UniProt VAR 080418
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.23
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.11
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial… (PMID 28965847)
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)