I134M (p.Ile134Met) variant of PCDH19 (Protocadherin-19)
I134M (p.Ile134Met) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, 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 0.09 / 1. The record also includes population frequency data and structural context.
I134M (p.Ile134Met) variant details
- p.Ile134Met
- rs41300169
- ClinGen CA333826099
- ClinVar RCV003112610
- 1000Genomes rs41300169
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.0946
- REVEL 0.10
- CADD 3.66
- PolyPhen-2 0.18
- SIFT 0.04
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available