Y429C (p.Tyr429Cys) variant of MMUT (P22033)
Y429C (p.Tyr429Cys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Y429C (p.Tyr429Cys) variant details
- p.Tyr429Cys
- rs201741770
- ClinGen CA3846926
- ClinVar RCV001561604
- ClinVar RCV004699419
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.85
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:HAN population (allele frequency 0.03)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)