N86D (p.Asn86Asp) variant of NPC1 (O15118)
N86D (p.Asn86Asp) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N86D (p.Asn86Asp) variant details
- p.Asn86Asp
- gnomAD rs1386653803
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available