V12D (p.Val12Asp) variant of HBB (Hemoglobin subunit beta)
V12D (p.Val12Asp) 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 WINDSOR. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
V12D (p.Val12Asp) variant details
- p.Val12Asp
- rs35140348
- ClinGen CA125235
- ClinVar RCV000016642
- UniProt VAR 002873
- other
- HEMOGLOBIN WINDSOR
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: other (HEMOGLOBIN WINDSOR)
- EBI: Benign (in Windsor)
- UniProt: Benign (in Windsor)
- Structural context available
- Cited in: Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia. (PMID 2599880)