I87I (p.Ile87Ile) variant of NPC2 (P61916)
I87I (p.Ile87Ile) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I87I (p.Ile87Ile) variant details
- p.Ile87Ile
- gnomAD 14-74484517-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available