P30S (p.Pro30Ser) variant of MMAB (Q96EY8)
P30S (p.Pro30Ser) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type; Inborn genetic diseases. 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs550461600
- ClinGen CA6779065
- ClinVar RCV003338191
- ClinVar RCV004961272
- Uncertain significance
- Methylmalonic aciduria, cblB type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)