A59E (p.Ala59Glu) variant of NPHS2 (Podocin)
A59E (p.Ala59Glu) in NPHS2 (Podocin) 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 0.34 / 1. The record also includes population frequency data and structural context.
A59E (p.Ala59Glu) variant details
- p.Ala59Glu
- rs201106340
- ClinGen CA1267303
- ClinVar RCV002193009
- 1000Genomes rs201106340
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.37
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 0.1)
- Structural context available