S51T (p.Ser51Thr) variant of HBD (Hemoglobin subunit delta)
S51T (p.Ser51Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S51T (p.Ser51Thr) variant details
- p.Ser51Thr
- cosmic curated COSV53083
- ExAC rs778926249
- gnomAD rs778926249
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.55
- CADD 12.50
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available