G22A (p.Gly22Ala) variant of PTCH1 (Protein patched homolog 1)
G22A (p.Gly22Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- 1000Genomes rs575700967
- ExAC rs575700967
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.32
- CADD 14.90
- PolyPhen-2 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available