V74V (p.Val74Val) variant of NPC2 (P61916)
V74V (p.Val74Val) 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.
V74V (p.Val74Val) variant details
- p.Val74Val
- rs763523833
- gnomAD 14-74484556-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0966
- CADD 2.25
- Population evidence available
- Structural context available
- Literature evidence available