S31N (p.Ser31Asn) variant of MMAA (Q8IVH4)
S31N (p.Ser31Asn) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- rs142126209
- ClinGen CA3095121
- ClinVar RCV001278250
- ClinVar RCV002537788
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.60
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- 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)