A13T (p.Ala13Thr) variant of PCDH19 (Protocadherin-19)
A13T (p.Ala13Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs1928484938
- ClinGen CA414011515
- ClinVar RCV003862015
- TOPMed rs1928484938
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available