K29N (p.Lys29Asn) variant of MMADHC (Q9H3L0)
K29N (p.Lys29Asn) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Disorders of Intracellular Cobalamin Metabolism; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- rs61750442
- ClinGen CA1902504
- ClinVar RCV000304535
- ClinVar RCV000421018
- Benign/Likely benign
- Disorders of Intracellular Cobalamin Metabolism; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Benign/Likely benign (Disorders of Intracellular Cobalamin Metabolism; not specified;)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.034)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)