Q81R (p.Gln81Arg) variant of MMAB (Q96EY8)
Q81R (p.Gln81Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q81R (p.Gln81Arg) variant details
- p.Gln81Arg
- rs2548610981
- ClinGen CA386639603
- ClinVar RCV002827519
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)