R4K (p.Arg4Lys) variant of NPHS2 (Podocin)
R4K (p.Arg4Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- TOPMed rs1031260460
- gnomAD rs1031260460
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.41
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available