P53L (p.Pro53Leu) variant of MMAB (Q96EY8)
P53L (p.Pro53Leu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs764683053
- ClinGen CA6779030
- ClinVar RCV001113944
- ClinVar RCV002556225
- Uncertain significance
- Inborn genetic diseases; not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- ESM-1b 0.76
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Methylmalonic aciduria, c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)