A28T (p.Ala28Thr) variant of PTCH1 (Protein patched homolog 1)
A28T (p.Ala28Thr) in PTCH1 (Protein patched homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- TOPMed rs1341574540
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.17
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available