L41P (p.Leu41Pro) variant of NPHS1 (Nephrin)
L41P (p.Leu41Pro) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- gnomAD rs1401704364
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.76
- SIFT 0.01
- Population evidence available
- Structural context available