R3K (p.Arg3Lys) variant of NPHS2 (Podocin)
R3K (p.Arg3Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- TOPMed rs1674751079
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.36
- CADD 4.05
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available