A20P (p.Ala20Pro) variant of PCDH19 (Protocadherin-19)
A20P (p.Ala20Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs1413763025
- ClinGen CA414011468
- ClinVar RCV000700166
- TOPMed rs1413763025
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.15
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available