F24L (p.Phe24Leu) variant of NPC2 (P61916)
F24L (p.Phe24Leu) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- Ensembl rs1566605868
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available