P24L (p.Pro24Leu) variant of PTCH1 (Protein patched homolog 1)
P24L (p.Pro24Leu) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs767973616
- ClinGen CA5139059
- ClinVar RCV000690903
- ClinVar RCV002369856
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.21
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.64
- CADD 19.10
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome; not sp)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00015)
- 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)