V7L (p.Val7Leu) variant of ALPL (P05186)
V7L (p.Val7Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- TOPMed rs1034151595
- gnomAD rs1034151595
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available