C620R (p.Cys620Arg) variant of RET (P07949)
C620R (p.Cys620Arg) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aganglionic megacolon; Multiple endocrine neoplasia, type 2; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C620R (p.Cys620Arg) variant details
- p.Cys620Arg
- rs77316810
- ClinGen CA008055
- cosmic curated COSV60691
- ClinVar RCV000014935
- Pathogenic
- Aganglionic megacolon; Multiple endocrine neoplasia, type 2; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Aganglionic megacolon; Multiple endocrine neoplasia, type 2; Her)
- EBI: Pathogenic (in MEN2A, MTC and HSCR1)
- UniProt: Pathogenic (in MEN2A, MTC and HSCR1)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. (PMID 7633441)
- Cited in: Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. (PMID 7881414)