H3R (p.His3Arg) variant of HBB (Hemoglobin subunit beta)
H3R (p.His3Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- rs33983205
- ClinGen CA124828
- ClinVar RCV000016324
- ClinVar RCV001811150
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.67
- MetaSVM 0.29
- CADD 16.30
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Benign (in Deer Lodge)
- UniProt: Benign (in Deer Lodge)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: An individlal with hemoglobins S and deer lodge. (PMID 1052174)
- Cited in: Hb Deer Lodge in a Caucasian American: effect of iron deficiency on level of variant. (PMID 3384712)