K666N (p.Lys666Asn) variant of RET (P07949)
K666N (p.Lys666Asn) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K666N (p.Lys666Asn) variant details
- p.Lys666Asn
- rs146646971
- ClinGen CA008525
- ClinVar RCV000082052
- ClinVar RCV000174156
- Uncertain significance
- Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)