S45F (p.Ser45Phe) variant of HBD (Hemoglobin subunit delta)
S45F (p.Ser45Phe) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- rs747164859
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- ExAC rs747164859
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.79
- MetaSVM -0.09
- CADD 10.90
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available