E90K (p.Glu90Lys) variant of NPHS2 (Podocin)
E90K (p.Glu90Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E90K (p.Glu90Lys) variant details
- p.Glu90Lys
- cosmic curated COSV10652
- gnomAD rs1441982526
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.49
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available