S32L (p.Ser32Leu) variant of RET (P07949)
S32L (p.Ser32Leu) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 2; Hirschsprung disease, susceptibility to, 1. 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.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs76764689
- ClinGen CA009398
- ClinVar RCV000014948
- ClinVar RCV000678742
- Likely pathogenic
- Multiple endocrine neoplasia, type 2; Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.43
- MetaLR 0.31
- MetaSVM -0.36
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 2; Hirschsprung disease, susc)
- EBI: Pathogenic (in HSCR1)
- UniProt: Pathogenic (in HSCR1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and… (PMID 10618407)
- Cited in: Mutations of the RET proto-oncogene in Hirschsprung's disease. (PMID 8114939)