D66N (p.Asp66Asn) variant of NPHS2 (Podocin)
D66N (p.Asp66Asn) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- ExAC rs758645314
- gnomAD rs758645314
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.36
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available