W16C (p.Trp16Cys) variant of HBD (Hemoglobin subunit delta)
W16C (p.Trp16Cys) 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 0.80 / 1. The record also includes population frequency data and structural context.
W16C (p.Trp16Cys) variant details
- p.Trp16Cys
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.08
- CADD 23.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available