W38C (p.Trp38Cys) variant of HBD (Hemoglobin subunit delta)
W38C (p.Trp38Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
W38C (p.Trp38Cys) variant details
- p.Trp38Cys
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.69
- CADD 25.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available