P55S (p.Pro55Ser) variant of PCDH19 (Protocadherin-19)
P55S (p.Pro55Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs774662487
- ClinGen CA414011242
- ClinVar RCV002301956
- ClinVar RCV002400431
- Conflicting interpretations
- Inborn genetic diseases; not provided; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.02
- CADD 8.38
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Developmental and epilept)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)