S139L (p.Ser139Leu) variant of PCDH19 (Protocadherin-19)
S139L (p.Ser139Leu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
S139L (p.Ser139Leu) variant details
- p.Ser139Leu
- rs1555985687
- ClinGen CA414009791
- ClinVar RCV000521658
- ClinVar RCV001206419
- Conflicting interpretations
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.44
- MetaLR 0.31
- MetaSVM -0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available