D7G (p.Asp7Gly) variant of HBA1 (Hemoglobin subunit alpha)
D7G (p.Asp7Gly) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- rs281864805
- UniProt VAR 002724
- Ensembl rs281864805
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- MetaLR 0.89
- MetaSVM 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in Swan River)
- UniProt: Benign (in Swan River)
- Population evidence available
- Structural context available
- Cited in: HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man. (PMID 8745434)