S18T (p.Ser18Thr) variant of PTCH1 (Protein patched homolog 1)
S18T (p.Ser18Thr) in PTCH1 (Protein patched homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- ExAC rs750062220
- gnomAD rs750062220
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.38
- CADD 14.80
- PolyPhen-2 0.00
- Population evidence available
- Structural context available