L51V (p.Leu51Val) variant of NPC1 (O15118)
L51V (p.Leu51Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD 18-23529707-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available