N120K (p.Asn120Lys) variant of MMUT (P22033)
N120K (p.Asn120Lys) in MMUT (P22033) 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.
N120K (p.Asn120Lys) variant details
- p.Asn120Lys
- rs2481349847
- ClinGen CA364404913
- ClinVar RCV003843608
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available