D121N (p.Asp121Asn) variant of PCDH19 (Protocadherin-19)
D121N (p.Asp121Asn) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D121N (p.Asp121Asn) variant details
- p.Asp121Asn
- rs796052795
- ClinGen CA414010340
- ClinVar RCV000489751
- ClinVar RCV006463059
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9; not provided)
- EBI: Pathogenic (in DEE9)
- UniProt: Pathogenic (in DEE9)
- Structural context available
- Cited in: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects… (PMID 19214208)
- Cited in: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID 18469813)