P100P (p.Pro100Pro) variant of NPC2 (P61916)
P100P (p.Pro100Pro) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P100P (p.Pro100Pro) variant details
- p.Pro100Pro
- rs2139667977
- gnomAD 14-74484478-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 13.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available