R40L (p.Arg40Leu) variant of PTCH1 (Protein patched homolog 1)
R40L (p.Arg40Leu) 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 0.47 / 1. The record also includes published literature and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- rs755400723
- ClinGen CA374121399
- ClinVar RCV001294351
- ExAC rs755400723
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.14
- MetaLR 0.53
- MetaSVM -0.39
- PolyPhen-2 0.05
- SIFT 0.31
- MutPred 0.30
- 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)