P42L (p.Pro42Leu) variant of MMACHC (Q9Y4U1)
P42L (p.Pro42Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs763226016
- ClinGen CA827645
- NCI-TCGA Cosmic COSV5311
- ClinVar RCV001772400
- Uncertain significance
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.31
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)