M918T (p.Met918Thr) variant of RET (P07949)
M918T (p.Met918Thr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia type 2A; Hirschsprung disease, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M918T (p.Met918Thr) variant details
- p.Met918Thr
- rs74799832
- ClinGen CA009082
- NCI-TCGA Cosmic COSV6068
- cosmic curated COSV60685
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia type 2A; Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia type 2A; Hirschsprung disease, susc)
- EBI: Pathogenic (in MEN2B and MTC)
- UniProt: Pathogenic (in MEN2B and MTC)
- Population evidence available
- Structural context available
- Cited in: Renal aplasia in humans is associated with RET mutations. (PMID 18252215)
- Cited in: Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in… (PMID 24560924)