P23L (p.Pro23Leu) variant of MCCC1 (Q96RQ3)
P23L (p.Pro23Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1293019202
- ClinGen CA355324201
- ClinVar RCV002578378
- TOPMed rs1293019202
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available