A58S (p.Ala58Ser) variant of PCDH19 (Protocadherin-19)
A58S (p.Ala58Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A58S (p.Ala58Ser) variant details
- p.Ala58Ser
- rs763745318
- ClinGen CA10469011
- ClinVar RCV001217909
- ClinVar RCV005257999
- Uncertain significance
- Developmental and epileptic encephalopathy, 9; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.05
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.36
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00038)
- 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)