F2717Y (p.Phe2717Tyr) variant of HTT (Huntingtin)
F2717Y (p.Phe2717Tyr) in HTT (Huntingtin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lopes-Maciel-Rodan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
F2717Y (p.Phe2717Tyr) variant details
- p.Phe2717Tyr
- rs1060505028
- ClinGen CA16616860
- ClinVar RCV000477714
- Ensembl rs1060505028
- Pathogenic
- Lopes-Maciel-Rodan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.19
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.99
- SIFT 0.44
- EVE 0.18
- ClinVar: Pathogenic (Lopes-Maciel-Rodan syndrome)
- EBI: Pathogenic (in LOMARS)
- UniProt: Pathogenic (in LOMARS)
- Structural context available
- Cited in: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. (PMID 27329733)
- Cited in: Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. (PMID 33432339)