D47G (p.Asp47Gly) variant of PCDH15 (Protocadherin-15)
D47G (p.Asp47Gly) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- ExAC rs761587850
- gnomAD rs761587850
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.23
- MetaSVM -0.60
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)