T146R (p.Thr146Arg) variant of PCDH19 (Protocadherin-19)
T146R (p.Thr146Arg) 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 0.52 / 1. The record also includes published literature and structural context.
T146R (p.Thr146Arg) variant details
- p.Thr146Arg
- rs796052799
- ClinGen CA316296
- ClinVar RCV000188349
- ClinVar RCV001378123
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.74
- MetaLR 0.40
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9; not provided)
- 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)