S24T (p.Ser24Thr) variant of MCCC1 (Q96RQ3)
S24T (p.Ser24Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- rs762409158
- ClinGen CA2719234
- ClinVar RCV001325208
- ClinVar RCV004035151
- Uncertain significance
- Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.26
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 defi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- 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)