S3A (p.Ser3Ala) variant of PTCH1 (Protein patched homolog 1)
S3A (p.Ser3Ala) 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 0.63 / 1. The record also includes published literature and structural context.
S3A (p.Ser3Ala) variant details
- p.Ser3Ala
- rs2118910766
- ClinGen CA374121778
- ClinVar RCV002037139
- Ensembl rs2118910766
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.13
- MetaLR 0.75
- MetaSVM 0.56
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.10
- 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)