R50P (p.Arg50Pro) variant of NPHS2 (Podocin)
R50P (p.Arg50Pro) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- gnomAD rs1246051609
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.40
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available