L194P (p.Leu194Pro) variant of NKX2-1 (Homeobox protein Nkx-2.1)
L194P (p.Leu194Pro) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Benign hereditary chorea. The record also includes structural context.
L194P (p.Leu194Pro) variant details
- p.Leu194Pro
- cosmic curated COSV61388
- Likely pathogenic
- Benign hereditary chorea
- Missense
- ClinVar: Likely pathogenic (Benign hereditary chorea)
- UniProt: Likely pathogenic
- Structural context available