P6H (p.Pro6His) variant of HBB (Hemoglobin subunit beta)
P6H (p.Pro6His) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Warwickshire. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- NCI-TCGA Cosmic COSV5894
- TOPMed rs34769005
- Variant assessed as somatic; moderate impact.
- in Warwickshire
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.52
- ESM-1b 0.99
- AlphaMissense 0.17
- MetaLR 0.58
- MetaSVM -0.32
- CADD 0.03
- UniProt: Variant assessed as somatic; moderate impact. (in Warwickshire)
- Population evidence available
- Structural context available