P6S (p.Pro6Ser) variant of HBD (Hemoglobin subunit delta)
P6S (p.Pro6Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- 1000Genomes rs562543884
- ExAC rs562543884
- TOPMed rs562543884
- gnomAD rs562543884
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.30
- MetaSVM -0.82
- CADD 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available