L9V (p.Leu9Val) variant of NPC2 (P61916)
L9V (p.Leu9Val) 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 0.27 / 1. The record also includes structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- TOPMed rs1033995785
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available