Y23S (p.Tyr23Ser) variant of MCCC2 (Q9HCC0)
Y23S (p.Tyr23Ser) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y23S (p.Tyr23Ser) variant details
- p.Tyr23Ser
- rs1238687077
- ClinGen CA360001907
- ClinVar RCV003067403
- ClinVar RCV003083339
- Conflicting interpretations
- Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.74
- CADD 24.50
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 2 defi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 8e-05)
- 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)