P52A (p.Pro52Ala) variant of HBD (Hemoglobin subunit delta)
P52A (p.Pro52Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- gnomAD rs1160528495
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.41
- MetaSVM -0.67
- CADD 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available