P43L (p.Pro43Leu) variant of MMAA (Q8IVH4)
P43L (p.Pro43Leu) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs886059088
- ClinGen CA10617102
- NCI-TCGA Cosmic COSV5558
- cosmic curated COSV55582
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.29
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)