F8L (p.Phe8Leu) variant of NPC2 (P61916)
F8L (p.Phe8Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- Ensembl rs2086796595
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available