D68G (p.Asp68Gly) variant of NPHS2 (Podocin)
D68G (p.Asp68Gly) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- gnomAD rs1289258360
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- CADD 24.60
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available