L3M (p.Leu3Met) variant of NPHS1 (Nephrin)
L3M (p.Leu3Met) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- rs756995769
- ClinGen CA9390949
- ClinVar RCV002995252
- ExAC rs756995769
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available