V77I (p.Val77Ile) variant of NPC1 (O15118)
V77I (p.Val77Ile) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V77I (p.Val77Ile) variant details
- p.Val77Ile
- ExAC rs754380762
- gnomAD rs754380762
- Missense
- Variant Prioritization Score for Impact Estimate 0.0818
- CADD 0.16
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available