V44A (p.Val44Ala) variant of KCNJ11 (Q14654)
V44A (p.Val44Ala) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- rs2496412079
- ClinGen CA379776612
- ClinVar RCV003574145
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available