Q39P (p.Gln39Pro) variant of NPHS2 (Podocin)
Q39P (p.Gln39Pro) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q39P (p.Gln39Pro) variant details
- p.Gln39Pro
- TOPMed rs1410441966
- gnomAD rs1410441966
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- CADD 5.84
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Latino/Admixed American population (allele frequency 3.3e-05)
- Structural context available