L105V (p.Leu105Val) variant of NPC1 (O15118)
L105V (p.Leu105Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L105V (p.Leu105Val) variant details
- p.Leu105Val
- TOPMed rs771946739
- gnomAD rs771946739
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.24
- CADD 9.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available