V63I (p.Val63Ile) variant of F8 (Coagulation factor VIII)
V63I (p.Val63Ile) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- Ensembl rs1569560019
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.48
- MetaLR 0.80
- MetaSVM 0.26
- CADD 9.06
- PolyPhen-2 0.04
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available