A7V (p.Ala7Val) variant of PTCH1 (Protein patched homolog 1)
A7V (p.Ala7Val) 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 not provided; Hereditary cancer-predisposing syndrome; Basal cell carcinoma, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1564092028
- ClinGen CA374121702
- ClinVar RCV000697946
- ClinVar RCV002422546
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Basal cell carcinoma, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.22
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Basal cel)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- 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)