E123K (p.Glu123Lys) variant of NLRP1 (Q9C000)
E123K (p.Glu123Lys) in NLRP1 (Q9C000) is a missense change.
E123K (p.Glu123Lys) variant details
- p.Glu123Lys
- cosmic curated COSV52562
- Ensembl rs867864593
- Missense
E123K (p.Glu123Lys) in NLRP1 (Q9C000) is a missense change.