G15D (p.Gly15Asp) variant of PTCH1 (Protein patched homolog 1)
G15D (p.Gly15Asp) 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 0.31 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- Ensembl rs2118910016
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.24
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Gorlin syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available