K98Q (p.Lys98Gln) variant of PCDH19 (Protocadherin-19)
K98Q (p.Lys98Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K98Q (p.Lys98Gln) variant details
- p.Lys98Gln
- rs372702479
- ClinGen CA333826103
- ClinVar RCV001947706
- ESP rs372702479
- Uncertain significance
- Developmental and epileptic encephalopathy, 9; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- CADD 22.40
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available