G17V (p.Gly17Val) variant of PTCH1 (Protein patched homolog 1)
G17V (p.Gly17Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- TOPMed rs1265021279
- gnomAD rs1265021279
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available