D66E (p.Asp66Glu) variant of NPHS2 (Podocin)
D66E (p.Asp66Glu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- gnomAD rs1226582592
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.35
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available