I65F (p.Ile65Phe) variant of NPC2 (P61916)
I65F (p.Ile65Phe) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I65F (p.Ile65Phe) variant details
- p.Ile65Phe
- gnomAD 14-74484585-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- ESM-1b 0.01
- AlphaMissense 0.20
- CADD 17.40
- PolyPhen-2 0.37
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available