E43K (p.Glu43Lys) variant of NPC1 (O15118)
E43K (p.Glu43Lys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs138277307
- ClinGen CA8913819
- ClinVar RCV001579569
- ESP rs138277307
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.24
- CADD 4.51
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available