S86P (p.Ser86Pro) variant of MCCC1 (Q96RQ3)
S86P (p.Ser86Pro) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
S86P (p.Ser86Pro) variant details
- p.Ser86Pro
- rs2108565751
- ClinGen CA355321568
- ClinVar RCV001366749
- Ensembl rs2108565751
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.81
- MetaLR 0.97
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available