H43Y (p.His43Tyr) variant of MMADHC (Q9H3L0)
H43Y (p.His43Tyr) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H43Y (p.His43Tyr) variant details
- p.His43Tyr
- rs775175927
- ClinGen CA1902498
- ClinVar RCV001885998
- ClinVar RCV005660199
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.23
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.96
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria and homocystinur)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)