R972G (p.Arg972Gly) variant of RET (P07949)
R972G (p.Arg972Gly) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
R972G (p.Arg972Gly) variant details
- p.Arg972Gly
- rs76534745
- ClinGen CA009130
- cosmic curated COSV60711
- ClinVar RCV000014947
- Likely pathogenic
- Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.53
- MetaLR 0.63
- MetaSVM 0.27
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Familial medullary thyroid carcinoma; Multiple endocrine neoplas)
- EBI: Pathogenic (in HSCR1)
- UniProt: Pathogenic (in HSCR1)
- Structural context available
- Cited in: Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. (PMID 7704557)
- Cited in: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. (PMID 8114938)