P82P (p.Pro82Pro) variant of NPC2 (P61916)
P82P (p.Pro82Pro) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P82P (p.Pro82Pro) variant details
- p.Pro82Pro
- gnomAD 14-74484532-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.52
- Population evidence available
- Structural context available
- Literature evidence available