D18V (p.Asp18Val) variant of NF1 (Neurofibromin)
D18V (p.Asp18Val) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- Ensembl rs2143145636
- Uncertain significance
- Missense
- MetaLR 0.07
- MetaSVM -1.14
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available