P18S (p.Pro18Ser) variant of MMACHC (Q9Y4U1)
P18S (p.Pro18Ser) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1323856934
- ClinGen CA340128619
- ClinVar RCV003486153
- gnomAD rs1323856934
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)