H97Q (p.His97Gln) variant of NPHS1 (Nephrin)
H97Q (p.His97Gln) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
H97Q (p.His97Gln) variant details
- p.His97Gln
- ExAC rs767994137
- TOPMed rs767994137
- gnomAD rs767994137
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0569
- REVEL 0.04
- CADD 1.72
- PolyPhen-2 0.01
- SIFT 0.82
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available