P54L (p.Pro54Leu) variant of NPHS2 (Podocin)
P54L (p.Pro54Leu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- TOPMed rs1400380943
- gnomAD rs1400380943
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.18
- CADD 9.51
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available