H96P (p.His96Pro) variant of KCNQ2 (O43526)
H96P (p.His96Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
H96P (p.His96Pro) variant details
- p.His96Pro
- rs868055567
- ClinGen CA16043143
- ClinVar RCV000413215
- Ensembl rs868055567
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available