D54G (p.Asp54Gly) variant of NPC1 (O15118)
D54G (p.Asp54Gly) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D54G (p.Asp54Gly) variant details
- p.Asp54Gly
- Ensembl rs1045798708
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available