C97G (p.Cys97Gly) variant of NPC1 (O15118)
C97G (p.Cys97Gly) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C97G (p.Cys97Gly) variant details
- p.Cys97Gly
- gnomAD rs1330533921
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available