P88P (p.Pro88Pro) variant of NPC2 (P61916)
P88P (p.Pro88Pro) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P88P (p.Pro88Pro) variant details
- p.Pro88Pro
- rs1011669605
- gnomAD 14-74484514-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 13.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available