P20L (p.Pro20Leu) variant of RET (P07949)
P20L (p.Pro20Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1837067697
- ClinGen CA376768105
- ClinVar RCV002012141
- UniProt VAR 009459
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.56
- MetaLR 0.82
- MetaSVM 0.44
- CADD 21.60
- PolyPhen-2 0.18
- SIFT 1.00
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2)
- EBI: Pathogenic (in HSCR1)
- UniProt: Pathogenic (in HSCR1)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. (PMID 7633441)
- Cited in: Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung… (PMID 10090908)