K38E (p.Lys38Glu) variant of NPC1 (O15118)
K38E (p.Lys38Glu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- rs2058428154
- gnomAD 18-23529719-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available