M3V (p.Met3Val) variant of MMAA (Q8IVH4)
M3V (p.Met3Val) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- rs527340737
- ClinGen CA3095100
- NCI-TCGA Cosmic COSV9985
- cosmic curated COSV99850
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)