G22V (p.Gly22Val) variant of PTCH1 (Protein patched homolog 1)
G22V (p.Gly22Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- rs575700967
- ClinGen CA374121484
- ClinVar RCV002050146
- ClinVar RCV005262543
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.32
- PolyPhen-2 0.06
- SIFT 0.18
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)