P6L (p.Pro6Leu) variant of HBD (Hemoglobin subunit delta)
P6L (p.Pro6Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- ExAC rs759483345
- gnomAD rs759483345
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.45
- ESM-1b 0.11
- AlphaMissense 0.13
- MetaLR 0.41
- MetaSVM -0.76
- CADD 0.07
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available