G16V (p.Gly16Val) variant of PTCH1 (Protein patched homolog 1)
G16V (p.Gly16Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- Ensembl rs1843909922
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.27
- CADD 15.10
- PolyPhen-2 0.07
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available