L790F (p.Leu790Phe) variant of RET (P07949)
L790F (p.Leu790Phe) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia type 2A; Familial medullary thyroid carcinoma; Mult. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L790F (p.Leu790Phe) variant details
- p.Leu790Phe
- rs75030001
- ClinGen CA008702
- cosmic curated COSV10521
- ClinVar RCV000014960
- Pathogenic
- Multiple endocrine neoplasia type 2A; Familial medullary thyroid carcinoma; Mult
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.73
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic (Multiple endocrine neoplasia type 2A; Familial medullary thyroid)
- EBI: Pathogenic (in MEN2A and MTC)
- UniProt: Pathogenic (in MEN2A and MTC)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple… (PMID 9506724)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)