A19V (p.Ala19Val) variant of PCDH19 (Protocadherin-19)
A19V (p.Ala19Val) 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.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs1928482665
- ClinGen CA414011470
- ClinVar RCV001056266
- Ensembl rs1928482665
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.23
- 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