A68T (p.Ala68Thr) variant of PCDH19 (Protocadherin-19)
A68T (p.Ala68Thr) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- rs1064797379
- ClinGen CA16621904
- ClinVar RCV000488326
- ClinVar RCV001054798
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.34
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available