P45A (p.Pro45Ala) variant of PTCH1 (Protein patched homolog 1)
P45A (p.Pro45Ala) 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; Basal cell carcinoma, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs1843894066
- ClinGen CA374121376
- ClinVar RCV002387667
- ClinVar RCV003464509
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Basal cell carcinoma, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.05
- MetaLR 0.43
- MetaSVM -0.45
- PolyPhen-2 0.00
- SIFT 0.64
- MutPred 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Basal cell carcinoma, s)
- 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)