C93R (p.Cys93Arg) variant of NPC2 (P61916)
C93R (p.Cys93Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C93R (p.Cys93Arg) variant details
- p.Cys93Arg
- gnomAD 14-74484501-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available