L25P (p.Leu25Pro) variant of PCDH19 (Protocadherin-19)
L25P (p.Leu25Pro) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs2520999081
- ClinGen CA414011433
- ClinVar RCV003064748
- UniProt VAR 067472
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.80
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic (in DEE9)
- UniProt: Pathogenic (in DEE9)
- Population evidence available
- Structural context available
- Cited in: Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. (PMID 21519002)
- Cited in: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID 18469813)