I101L (p.Ile101Leu) variant of NPC2 (P61916)
I101L (p.Ile101Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I101L (p.Ile101Leu) variant details
- p.Ile101Leu
- gnomAD 14-74484477-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available