P43A (p.Pro43Ala) variant of NPHS2 (Podocin)
P43A (p.Pro43Ala) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- 1000Genomes rs545872093
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available