A42P (p.Ala42Pro) variant of PTCH1 (Protein patched homolog 1)
A42P (p.Ala42Pro) 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 Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
A42P (p.Ala42Pro) variant details
- p.Ala42Pro
- rs2118908042
- ClinGen CA374121391
- ClinVar RCV001998600
- Ensembl rs2118908042
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.58
- PolyPhen-2 0.00
- SIFT 0.28
- MutPred 0.19
- ClinVar: Uncertain significance (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)