H20R (p.His20Arg) variant of MCCC1 (Q96RQ3)
H20R (p.His20Arg) 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 0.46 / 1. The record also includes population frequency data and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- rs751663186
- ClinGen CA2719239
- ClinVar RCV001916693
- ExAC rs751663186
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.38
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available