P54R (p.Pro54Arg) variant of NPHS2 (Podocin)
P54R (p.Pro54Arg) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- TOPMed rs1400380943
- gnomAD rs1400380943
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.24
- CADD 7.72
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available