R31R (p.Arg31Arg) variant of HBB (Hemoglobin subunit beta)
R31R (p.Arg31Arg) in HBB (Hemoglobin subunit beta) 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.
R31R (p.Arg31Arg) variant details
- p.Arg31Arg
- rs1135071
- gnomAD 11-5226799-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 15.80
- SIFT 0.00
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available