P37L (p.Pro37Leu) variant of HBD (Hemoglobin subunit delta)
P37L (p.Pro37Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD 11-5234196-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.10
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available