S80N (p.Ser80Asn) variant of MCCC1 (Q96RQ3)
S80N (p.Ser80Asn) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic dise. 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.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- rs774565207
- ClinGen CA2719161
- ClinVar RCV000625892
- ClinVar RCV002529767
- Uncertain significance
- not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- 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)