G26V (p.Gly26Val) variant of HBD (Hemoglobin subunit delta)
G26V (p.Gly26Val) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Yokoshima. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Variant assessed as somatic; moderate impact.
- in Yokoshima
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.54
- ESM-1b 0.62
- AlphaMissense 0.63
- MetaLR 0.70
- MetaSVM -0.08
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact. (in Yokoshima)
- Structural context available