L81R (p.Leu81Arg) variant of PCDH19 (Protocadherin-19)
L81R (p.Leu81Arg) 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 0.63 / 1. The record also includes published literature and structural context.
L81R (p.Leu81Arg) variant details
- p.Leu81Arg
- rs1569316056
- ClinGen CA414011078
- ClinVar RCV000698231
- UniProt VAR 064840
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic (in DEE9)
- UniProt: Pathogenic (in DEE9)
- Structural context available
- Cited in: Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. (PMID 21053371)
- Cited in: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID 18469813)