I77V (p.Ile77Val) variant of NPC2 (P61916)
I77V (p.Ile77Val) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- ExAC rs771374515
- gnomAD rs771374515
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available