P6L (p.Pro6Leu) variant of HBB (Hemoglobin subunit beta)
P6L (p.Pro6Leu) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- cosmic curated COSV58943
- TOPMed rs34769005
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- ESM-1b 0.57
- AlphaMissense 0.15
- Structural context available