R41L (p.Arg41Leu) variant of PTCH1 (Protein patched homolog 1)
R41L (p.Arg41Leu) 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; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs1554709493
- ClinGen CA374121393
- ClinVar RCV000628349
- ClinVar RCV006424638
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.29
- MetaLR 0.74
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)