V12G (p.Val12Gly) variant of HBD (Hemoglobin subunit delta)
V12G (p.Val12Gly) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Pylos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V12G (p.Val12Gly) variant details
- p.Val12Gly
- rs34090605
- UniProt VAR 030501
- ExAC rs34090605
- TOPMed rs34090605
- Benign
- in Pylos
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.92
- MetaSVM 1.06
- CADD 23.70
- EBI: Benign (in Pylos)
- UniProt: Benign (in Pylos)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD… (PMID 9101295)