V81F (p.Val81Phe) variant of NPC2 (P61916)
V81F (p.Val81Phe) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V81F (p.Val81Phe) variant details
- p.Val81Phe
- ExAC rs772444418
- TOPMed rs772444418
- gnomAD rs772444418
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.31
- ESM-1b 0.88
- AlphaMissense 0.17
- CADD 17.10
- PolyPhen-2 0.90
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available