P52L (p.Pro52Leu) variant of HBD (Hemoglobin subunit delta)
P52L (p.Pro52Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 11-5234151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.64
- MetaSVM -0.09
- CADD 19.90
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available