K28Q (p.Lys28Gln) variant of NPHS2 (Podocin)
K28Q (p.Lys28Gln) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- gnomAD rs1674744920
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.47
- CADD 17.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available