D55Y (p.Asp55Tyr) variant of GNAT1 (P11488)
D55Y (p.Asp55Tyr) in GNAT1 (P11488) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- rs1041904269
- ClinGen CA74601055
- ClinVar RCV001305259
- ClinVar RCV006372496
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.81
- CADD 29.30
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)