G5S (p.Gly5Ser) variant of PTCH1 (Protein patched homolog 1)
G5S (p.Gly5Ser) 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 not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs1843915589
- ClinGen CA374121750
- ClinVar RCV001322149
- ClinVar RCV004809563
- Uncertain significance
- not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.12
- MetaLR 0.38
- MetaSVM -0.57
- PolyPhen-2 0.01
- SIFT 0.44
- MutPred 0.04
- ClinVar: Uncertain significance (not provided; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)