P27R (p.Pro27Arg) variant of PTCH1 (Protein patched homolog 1)
P27R (p.Pro27Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- ExAC rs762960154
- gnomAD rs762960154
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available