P75L (p.Pro75Leu) variant of NPHS1 (Nephrin)
P75L (p.Pro75Leu) in NPHS1 (Nephrin) is a missense change. The record also includes structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- cosmic curated COSV10527
- TOPMed rs1218451320
- gnomAD rs1218451320
- Missense
- Structural context available