R70R (p.Arg70Arg) variant of HOGA1 (Q86XE5)
R70R (p.Arg70Arg) in HOGA1 (Q86XE5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R70R (p.Arg70Arg) variant details
- p.Arg70Arg
- gnomAD 10-97584913-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available