Q27R (p.Gln27Arg) variant of PCDH15 (Protocadherin-15)
Q27R (p.Gln27Arg) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- TOPMed rs1315064709
- gnomAD rs1315064709
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.38
- MetaSVM -0.54
- CADD 25.90
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)