N20S (p.Asn20Ser) variant of HBD (Hemoglobin subunit delta)
N20S (p.Asn20Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- gnomAD 11-5234375-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM -0.25
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available