A23T (p.Ala23Thr) variant of PTCH1 (Protein patched homolog 1)
A23T (p.Ala23Thr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs863224654
- ClinGen CA338400
- ClinVar RCV000199131
- ClinVar RCV001025668
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.21
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.74
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)