P10A (p.Pro10Ala) variant of PTCH1 (Protein patched homolog 1)
P10A (p.Pro10Ala) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs1587701162
- ClinGen CA374121632
- ClinVar RCV001041013
- ClinVar RCV002436549
- Conflicting interpretations
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.20
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)