P90P (p.Pro90Pro) variant of NPC2 (P61916)
P90P (p.Pro90Pro) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P90P (p.Pro90Pro) variant details
- p.Pro90Pro
- rs758503440
- gnomAD 14-74484508-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.24
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Literature evidence available