E135K (p.Glu135Lys) variant of PCDH19 (Protocadherin-19)
E135K (p.Glu135Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
E135K (p.Glu135Lys) variant details
- p.Glu135Lys
- ExAC rs759398718
- gnomAD rs759398718
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- AlphaMissense 0.24
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.10
- PolyPhen-2 0.98
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available