R47G (p.Arg47Gly) variant of PCDH19 (Protocadherin-19)
R47G (p.Arg47Gly) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- ExAC rs762069884
- gnomAD rs762069884
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.16
- AlphaMissense 0.19
- MetaLR 0.04
- MetaSVM -1.03
- CADD 23.40
- PolyPhen-2 0.82
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available