I77F (p.Ile77Phe) variant of NPC2 (P61916)
I77F (p.Ile77Phe) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I77F (p.Ile77Phe) variant details
- p.Ile77Phe
- gnomAD 14-74484549-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available