V55L (p.Val55Leu) variant of HBD (Hemoglobin subunit delta)
V55L (p.Val55Leu) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs1177265316
- ClinGen CA379277021
- ClinVar RCV004249216
- TOPMed rs1177265316
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.60
- MetaSVM -0.18
- CADD 12.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available