T62M (p.Thr62Met) variant of MMAB (Q96EY8)
T62M (p.Thr62Met) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Mevalonic aciduria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T62M (p.Thr62Met) variant details
- p.Thr62Met
- rs115802744
- ClinGen CA312710
- cosmic curated COSV99031
- ClinVar RCV000539204
- Benign/Likely benign
- not specified; not provided; Mevalonic aciduria
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Mevalonic aciduria)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.17)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)