V114M (p.Val114Met) variant of PCDH19 (Protocadherin-19)
V114M (p.Val114Met) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V114M (p.Val114Met) variant details
- p.Val114Met
- rs751708323
- ClinGen CA414010513
- ClinVar RCV003273248
- ClinVar RCV006472180
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.84
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)