A59V (p.Ala59Val) variant of NPHS2 (Podocin)
A59V (p.Ala59Val) in NPHS2 (Podocin) 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 0.34 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- 1000Genomes rs201106340
- ESP rs201106340
- ExAC rs201106340
- TOPMed rs201106340
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.36
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available