E8D (p.Glu8Asp) variant of NF1 (Neurofibromin)
E8D (p.Glu8Asp) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs2143144912
- ClinGen CA2573153208
- ClinVar RCV001972348
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.10
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)