H144R (p.His144Arg) variant of HBB (Hemoglobin subunit beta)
H144R (p.His144Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H144R (p.His144Arg) variant details
- p.His144Arg
- rs33918338
- ClinGen CA124714
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Pathogenic/Likely pathogenic
- not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.53
- ESM-1b 0.07
- AlphaMissense 0.24
- MetaLR 0.60
- MetaSVM 0.07
- CADD 15.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; beta Thalassemia)
- EBI: Pathogenic (in Abruzzo)
- UniProt: Pathogenic (in Abruzzo)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Hb Camperdown or alpha 2 beta 2(104)(G6)Arg----Ser in two Italian males. (PMID 2283301)