A7T (p.Ala7Thr) variant of PTCH1 (Protein patched homolog 1)
A7T (p.Ala7Thr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- TOPMed rs1843914764
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.28
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (Gorlin syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available