K26M (p.Lys26Met) variant of PCDH19 (Protocadherin-19)
K26M (p.Lys26Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K26M (p.Lys26Met) variant details
- p.Lys26Met
- rs755403368
- ClinGen CA10469018
- ClinVar RCV000793687
- ClinVar RCV003166107
- Uncertain significance
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.54
- AlphaMissense 0.73
- MetaLR 0.21
- MetaSVM -0.66
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.7e-05)
- Structural context available