V19M (p.Val19Met) variant of HBB (Hemoglobin subunit beta)
V19M (p.Val19Met) 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 BADEN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- rs35802118
- ClinGen CA125379
- ClinVar RCV000016781
- UniProt VAR 002885
- other
- HEMOGLOBIN BADEN
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- ESM-1b 1.00
- AlphaMissense 0.47
- ClinVar: other (HEMOGLOBIN BADEN)
- EBI: Benign (in Baden)
- UniProt: Benign (in Baden)
- Structural context available
- Cited in: Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a… (PMID 1463768)