V35D (p.Val35Asp) variant of HBD (Hemoglobin subunit delta)
V35D (p.Val35Asp) 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 0.77 / 1. The record also includes population frequency data and structural context.
V35D (p.Val35Asp) variant details
- p.Val35Asp
- rs2494308091
- ClinGen CA379277141
- ClinVar RCV004200993
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.82
- CADD 24.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available