L71P (p.Leu71Pro) variant of NPHS1 (Nephrin)
L71P (p.Leu71Pro) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- rs1568457698
- ClinGen CA405411478
- ClinVar RCV000712424
- Ensembl rs1568457698
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.68
- MetaLR 0.50
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available