A68V (p.Ala68Val) variant of PCDH19 (Protocadherin-19)
A68V (p.Ala68Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs1928473737
- ClinGen CA414011163
- ClinVar RCV001973733
- TOPMed rs1928473737
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.46
- MetaLR 0.16
- MetaSVM -0.91
- PolyPhen-2 0.89
- SIFT 0.16
- EVE 0.37
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available