G25D (p.Gly25Asp) variant of HBB (Hemoglobin subunit beta)
G25D (p.Gly25Asp) 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 MOSCVA. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs33968721
- ClinGen CA125042
- ClinVar RCV000016501
- UniProt VAR 002902
- other
- HEMOGLOBIN MOSCVA
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: other (HEMOGLOBIN MOSCVA)
- EBI: Benign (in Moscva)
- UniProt: Benign (in Moscva)
- Structural context available
- Cited in: New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR. (PMID 4525423)