I101V (p.Ile101Val) variant of PCDH19 (Protocadherin-19)
I101V (p.Ile101Val) 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; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- rs779017688
- ClinGen CA238705
- ClinVar RCV000724033
- ClinVar RCV001301985
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 9; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.12
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.028)
- 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)