G26R (p.Gly26Arg) variant of HBB (Hemoglobin subunit beta)
G26R (p.Gly26Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN G (TAIWAN-AMI). The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs34404985
- ClinGen CA124869
- cosmic curated COSV10942
- ClinVar RCV000016357
- other
- HEMOGLOBIN G (TAIWAN-AMI)
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.84
- MetaSVM 0.52
- CADD 31.00
- ClinVar: other (HEMOGLOBIN G (TAIWAN-AMI))
- EBI: Benign (in G-Taiwan Ami)
- UniProt: Benign (in G-Taiwan Ami)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Haemoglobin Siriraj, -7 ( A4) Glu leads to Lys, in a Chinese subject in Taiwan. (PMID 5077741)