G65A (p.Gly65Ala) variant of KCNQ3 (O43525)
G65A (p.Gly65Ala) in KCNQ3 (O43525) 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 0.82 / 1. The record also includes structural context.
G65A (p.Gly65Ala) variant details
- p.Gly65Ala
- rs1822519573
- ClinGen CA372292704
- ClinVar RCV001200488
- Ensembl rs1822519573
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.51
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.31
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available