R64Q (p.Arg64Gln) variant of TUBA1A (Tubulin alpha-1A chain)
R64Q (p.Arg64Gln) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs1942184922
- ClinGen CA384644863
- ClinVar RCV001266910
- ClinVar RCV005861225
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.87
- MetaLR 0.73
- MetaSVM 0.72
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- 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)