G509V (p.Gly509Val) variant of PTCH1 (Protein patched homolog 1)
G509V (p.Gly509Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Basal cell nevus syndrome 1; Gorlin syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G509V (p.Gly509Val) variant details
- p.Gly509Val
- rs1060502268
- ClinGen CA374118309
- ClinVar RCV001380596
- ClinVar RCV005702565
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Basal cell nevus syndrome 1; Gorlin syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Basal cell nevus syndro)
- EBI: Pathogenic (in BCNS1)
- UniProt: Pathogenic (in BCNS1)
- Structural context available
- Cited in: Structural basis for the recognition of Sonic Hedgehog by human Patched1. (PMID 29954986)
- Cited in: Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell… (PMID 8840969)