P6R (p.Pro6Arg) variant of HBB (Hemoglobin subunit beta)
P6R (p.Pro6Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN WARWICKSHIRE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs34769005
- ClinGen CA125231
- ClinVar RCV000016640
- UniProt VAR 002861
- other
- HEMOGLOBIN WARWICKSHIRE
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- ESM-1b 1.00
- AlphaMissense 0.19
- ClinVar: other (HEMOGLOBIN WARWICKSHIRE)
- EBI: Benign (in Warwickshire)
- UniProt: Benign (in Warwickshire)
- Structural context available
- Cited in: Haemoglobin Warwickshire (beta 5 [A2] Pro----Arg). A possible 'fine tuning' of 2,3-DPG affinity by beta 5 Pro. (PMID 6548451)