P16Q (p.Pro16Gln) variant of GABRB3 (P28472)
P16Q (p.Pro16Gln) in GABRB3 (P28472) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- rs1181620612
- ClinGen CA391465618
- ClinVar RCV002827890
- gnomAD rs1181620612
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.21
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-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)