L51R (p.Leu51Arg) variant of NPC1 (O15118)
L51R (p.Leu51Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L51R (p.Leu51Arg) variant details
- p.Leu51Arg
- rs776866747
- gnomAD 18-23529706-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 11.90
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Literature evidence available