A23V (p.Ala23Val) variant of PTCH1 (Protein patched homolog 1)
A23V (p.Ala23Val) 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 not specified; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs761204245
- ClinGen CA5139062
- ClinVar RCV000628480
- ClinVar RCV002258974
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 5.9e-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)