D34V (p.Asp34Val) variant of F8 (Coagulation factor VIII)
D34V (p.Asp34Val) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D34V (p.Asp34Val) variant details
- p.Asp34Val
- rs2073764726
- ClinGen CA414920522
- ClinVar RCV003120207
- ClinVar RCV004765753
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.56
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.84
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available