R84H (p.Arg84His) variant of TUBA1A (Tubulin alpha-1A chain)
R84H (p.Arg84His) in TUBA1A (Tubulin alpha-1A chain) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R84H (p.Arg84His) variant details
- p.Arg84His
- rs1400284461
- ClinGen CA384643659
- NCI-TCGA Cosmic COSV5549
- ClinVar RCV001265919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.61
- MetaLR 0.34
- MetaSVM -0.47
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- 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)