L57V (p.Leu57Val) variant of NBN (Nibrin)
L57V (p.Leu57Val) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- rs1586111504
- ClinGen CA371662869
- ClinVar RCV002511193
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available