L39P (p.Leu39Pro) variant of PTCH1 (Protein patched homolog 1)
L39P (p.Leu39Pro) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- rs768063889
- ClinGen CA5139044
- ClinVar RCV002938020
- ClinVar RCV003170585
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.24
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)