N85T (p.Asn85Thr) variant of MCCC1 (Q96RQ3)
N85T (p.Asn85Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N85T (p.Asn85Thr) variant details
- p.Asn85Thr
- rs148616219
- ClinGen CA2719160
- ClinVar RCV000865064
- ClinVar RCV003328637
- Conflicting interpretations
- not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available