N13S (p.Asn13Ser) variant of HBD (Hemoglobin subunit delta)
N13S (p.Asn13Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N13S (p.Asn13Ser) variant details
- p.Asn13Ser
- ExAC rs747684647
- TOPMed rs747684647
- gnomAD rs747684647
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.30
- MetaSVM -0.73
- CADD 0.00
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available