V77D (p.Val77Asp) variant of NPC1 (O15118)
V77D (p.Val77Asp) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V77D (p.Val77Asp) variant details
- p.Val77Asp
- gnomAD rs2059212939
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 11.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available