D48V (p.Asp48Val) variant of HBD (Hemoglobin subunit delta)
D48V (p.Asp48Val) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) PARKVILLE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- rs34977235
- ClinGen CA124677
- ClinVar RCV000016218
- UniProt VAR 003108
- other
- HEMOGLOBIN A(2) PARKVILLE
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: other (HEMOGLOBIN A(2) PARKVILLE)
- EBI: Benign (in Parkville)
- UniProt: Benign (in Parkville)
- Structural context available
- Cited in: Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant. (PMID 1802883)