L105P (p.Leu105Pro) variant of NPC1 (O15118)
L105P (p.Leu105Pro) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L105P (p.Leu105Pro) variant details
- p.Leu105Pro
- TOPMed rs2059164911
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.65
- CADD 24.60
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available