P76S (p.Pro76Ser) variant of PCDH19 (Protocadherin-19)
P76S (p.Pro76Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- TOPMed rs1433970971
- gnomAD rs1433970971
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.59
- SIFT 0.34
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available