K424N (p.Lys424Asn) variant of RET (P07949)
K424N (p.Lys424Asn) in RET (P07949) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A; Fami. The record also includes structural context.
K424N (p.Lys424Asn) variant details
- p.Lys424Asn
- ExAC rs761207209
- gnomAD rs761207209
- Uncertain significance
- Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A; Fami
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available