S90R (p.Ser90Arg) variant of HBB (Hemoglobin subunit beta)
S90R (p.Ser90Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN VANDERBILT; Erythrocytosis, familial, 6. 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.
S90R (p.Ser90Arg) variant details
- p.Ser90Arg
- rs35351128
- ClinGen CA125223
- ClinVar RCV000016635
- ClinVar RCV000641619
- Pathogenic; other
- HEMOGLOBIN VANDERBILT; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.73
- CADD 22.60
- ClinVar: Pathogenic; other (HEMOGLOBIN VANDERBILT; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Vanderbilt)
- UniProt: Pathogenic (in Vanderbilt)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory… (PMID 678476)