A52P (p.Ala52Pro) variant of PCDH19 (Protocadherin-19)
A52P (p.Ala52Pro) 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 0.29 / 1. The record also includes population frequency data and structural context.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- rs1928476742
- ClinGen CA414011261
- ClinVar RCV003328031
- ClinVar RCV003509807
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.74
- SIFT 0.19
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available