P20Q (p.Pro20Gln) variant of RET (P07949)
P20Q (p.Pro20Gln) 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 2; Pheochromocytoma; Familial medullary thyro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- rs1837067697
- ClinGen CA376768103
- ClinVar RCV001224702
- ClinVar RCV002356955
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Pheochromocytoma; Familial medullary thyro
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.25
- MetaLR 0.85
- MetaSVM 0.39
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.58
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Pheochromocytoma; Familial)
- EBI: Variant of uncertain significance (in HSCR1)
- UniProt: Uncertain significance (in HSCR1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)