E30K (p.Glu30Lys) variant of PCDH19 (Protocadherin-19)
E30K (p.Glu30Lys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs931969825
- ClinGen CA333826111
- ClinVar RCV001876331
- ClinVar RCV004953164
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.26
- SIFT 0.03
- 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 2.4e-06)
- 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)