G17S (p.Gly17Ser) variant of HBD (Hemoglobin subunit delta)
G17S (p.Gly17Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- cosmic curated COSV53083
- 1000Genomes rs34012192
- ESP rs34012192
- ExAC rs34012192
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available