I51T (p.Ile51Thr) variant of MMADHC (Q9H3L0)
I51T (p.Ile51Thr) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs755472574
- ClinGen CA1902491
- ClinVar RCV001341596
- ExAC rs755472574
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)