D17N (p.Asp17Asn) variant of KCNQ3 (O43525)
D17N (p.Asp17Asn) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs1355500787
- ClinGen CA372292998
- ClinVar RCV000647882
- gnomAD rs1355500787
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available