L6V (p.Leu6Val) variant of FBXW7 (Q969H0)
L6V (p.Leu6Val) in FBXW7 (Q969H0) 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 0.47 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- cosmic curated COSV10586
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.25
- CADD 25.50
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available