A51L (p.Ala51Leu) variant of NPHS2 (Podocin)
A51L (p.Ala51Leu) in NPHS2 (Podocin) 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.
A51L (p.Ala51Leu) variant details
- p.Ala51Leu
- rs2526378384
- ClinGen CA2580061521
- ClinVar RCV003086446
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available