V26A (p.Val26Ala) variant of NPC1 (O15118)
V26A (p.Val26Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- rs2145296953
- gnomAD 18-23529709-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0891
- CADD 1.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available