L96Q (p.Leu96Gln) variant of NPHS1 (Nephrin)
L96Q (p.Leu96Gln) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L96Q (p.Leu96Gln) variant details
- p.Leu96Gln
- rs2513785174
- ClinGen CA405411125
- ClinVar RCV003685149
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.86
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available