I87V (p.Ile87Val) variant of NPC2 (P61916)
I87V (p.Ile87Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- ExAC rs779138735
- gnomAD rs779138735
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.34
- MetaSVM -0.64
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available