P20S (p.Pro20Ser) variant of RET (P07949)
P20S (p.Pro20Ser) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs1205904653
- ClinGen CA376768100
- cosmic curated COSV60702
- ClinVar RCV000654562
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- MetaLR 0.80
- MetaSVM 0.24
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.83
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance (in HSCR1)
- UniProt: Uncertain significance (in HSCR1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)