H3P (p.His3Pro) variant of HBD (Hemoglobin subunit delta)
H3P (p.His3Pro) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H3P (p.His3Pro) variant details
- p.His3Pro
- ExAC rs35433207
- TOPMed rs35433207
- gnomAD rs35433207
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM -0.09
- CADD 22.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available