C93C (p.Cys93Cys) variant of NPC2 (P61916)
C93C (p.Cys93Cys) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C93C (p.Cys93Cys) variant details
- p.Cys93Cys
- rs750185667
- gnomAD 14-74484499-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 12.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available