A28S (p.Ala28Ser) variant of PTCH1 (Protein patched homolog 1)
A28S (p.Ala28Ser) 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.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- TOPMed rs1341574540
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available