P45R (p.Pro45Arg) variant of NPHS2 (Podocin)
P45R (p.Pro45Arg) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- ExAC rs770379901
- gnomAD rs770379901
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.22
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available