F42L (p.Phe42Leu) variant of HBD (Hemoglobin subunit delta)
F42L (p.Phe42Leu) 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 0.93 / 1. The record also includes structural context.
F42L (p.Phe42Leu) variant details
- p.Phe42Leu
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available