G16C (p.Gly16Cys) variant of NPHS2 (Podocin)
G16C (p.Gly16Cys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- Ensembl rs868756536
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.46
- CADD 11.60
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available