D128N (p.Asp128Asn) variant of NPC1 (O15118)
D128N (p.Asp128Asn) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- Ensembl rs868224237
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.26
- AlphaMissense 0.06
- MetaLR 0.30
- MetaSVM -0.84
- CADD 21.60
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available