K18R (p.Lys18Arg) variant of HBB (Hemoglobin subunit beta)
K18R (p.Lys18Arg) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- gnomAD rs369865419
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.72
- SIFT 0.02
- Structural context available