H176R (p.His176Arg) variant of SUFU (Suppressor of fused homolog)
H176R (p.His176Arg) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Joubert syndrome 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H176R (p.His176Arg) variant details
- p.His176Arg
- rs1554852272
- ClinGen CA377908386
- ClinVar RCV000515250
- UniProt VAR 080421
- Pathogenic
- Joubert syndrome 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Pathogenic (Joubert syndrome 32)
- EBI: Pathogenic (in JBTS32)
- UniProt: Pathogenic (in JBTS32)
- Structural context available
- Cited in: Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial… (PMID 28965847)