R34G (p.Arg34Gly) variant of PTCH1 (Protein patched homolog 1)
R34G (p.Arg34Gly) in PTCH1 (Protein patched homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- Ensembl rs2118908736
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available