T5S (p.Thr5Ser) variant of HBD (Hemoglobin subunit delta)
T5S (p.Thr5Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in haplotype T11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- rs35406175
- UniProt VAR 018741
- 1000Genomes rs35406175
- ESP rs35406175
- Benign
- in haplotype T11
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.50
- CADD 7.55
- EBI: Benign (in haplotype T11)
- UniProt: Benign (in haplotype T11)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Heterogeneous patterns of sequence variation in the human beta-globin gene cluster. (PMID 24275569)