S3L (p.Ser3Leu) variant of PTCH1 (Protein patched homolog 1)
S3L (p.Ser3Leu) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs1587701230
- ClinGen CA374121774
- ClinVar RCV001340545
- Ensembl rs1587701230
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.53
- AlphaMissense 0.35
- MetaLR 0.76
- MetaSVM 0.58
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (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)