V130I (p.Val130Ile) variant of NPC1 (O15118)
V130I (p.Val130Ile) in NPC1 (O15118) 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 0.18 / 1. The record also includes population frequency data and structural context.
V130I (p.Val130Ile) variant details
- p.Val130Ile
- ExAC rs768728943
- TOPMed rs768728943
- gnomAD rs768728943
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.24
- CADD 3.53
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available