R63K (p.Arg63Lys) variant of MCCC1 (Q96RQ3)
R63K (p.Arg63Lys) 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 0.81 / 1. The record also includes structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- rs2108565998
- ClinGen CA355321736
- ClinVar RCV001892307
- Ensembl rs2108565998
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.45
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available