G80G (p.Gly80Gly) variant of NPC2 (P61916)
G80G (p.Gly80Gly) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G80G (p.Gly80Gly) variant details
- p.Gly80Gly
- rs773836291
- gnomAD 14-74484538-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 2.31
- Population evidence available
- Structural context available
- Literature evidence available