A12V (p.Ala12Val) variant of KCNQ3 (O43525)
A12V (p.Ala12Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs796052672
- ClinGen CA315580
- ClinVar RCV000187961
- ClinVar RCV000806133
- Conflicting interpretations
- not specified; Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Benign neonatal seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available