C82Y (p.Cys82Tyr) variant of MMADHC (Q9H3L0)
C82Y (p.Cys82Tyr) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C82Y (p.Cys82Tyr) variant details
- p.Cys82Tyr
- rs368471008
- ClinGen CA1902459
- ClinVar RCV002647731
- ClinVar RCV005377319
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.80
- CADD 25.30
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria and homocystinur)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)