E20K (p.Glu20Lys) variant of NPC2 (P61916)
E20K (p.Glu20Lys) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs80358260
- ClinGen CA7268212
- ClinVar RCV001278151
- ESP rs80358260
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.09
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)