N58S (p.Asn58Ser) variant of HBD (Hemoglobin subunit delta)
N58S (p.Asn58Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- gnomAD 11-5234133-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.67
- ESM-1b 0.45
- AlphaMissense 0.51
- MetaLR 0.84
- MetaSVM 0.85
- CADD 25.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available