R195K (p.Arg195Lys) variant of PTCH1 (Protein patched homolog 1)
R195K (p.Arg195Lys) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
R195K (p.Arg195Lys) variant details
- p.Arg195Lys
- rs1554702009
- ClinGen CA374116547
- cosmic curated COSV59500
- ClinVar RCV001390423
- Pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.49
- MetaLR 0.48
- MetaSVM -0.26
- PolyPhen-2 0.01
- SIFT 0.36
- MutPred 0.38
- ClinVar: Pathogenic (Gorlin syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)