L14P (p.Leu14Pro) variant of NPC1 (O15118)
L14P (p.Leu14Pro) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- ExAC rs776078068
- gnomAD rs776078068
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.75
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available