A68D (p.Ala68Asp) variant of PCDH19 (Protocadherin-19)
A68D (p.Ala68Asp) in PCDH19 (Protocadherin-19) 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 0.33 / 1. The record also includes population frequency data and structural context.
A68D (p.Ala68Asp) variant details
- p.Ala68Asp
- TOPMed rs1928473737
- gnomAD rs1928473737
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.09
- AlphaMissense 0.46
- MetaLR 0.16
- MetaSVM -0.91
- CADD 22.50
- PolyPhen-2 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available