A8T (p.Ala8Thr) variant of PTCH1 (Protein patched homolog 1)
A8T (p.Ala8Thr) 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 Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs2118910390
- ClinGen CA374121666
- ClinVar RCV001897418
- Ensembl rs2118910390
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.23
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-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)