P6R (p.Pro6Arg) variant of HBD (Hemoglobin subunit delta)
P6R (p.Pro6Arg) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.42
- MetaSVM -0.70
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available