R15Q (p.Arg15Gln) variant of NPHS2 (Podocin)
R15Q (p.Arg15Gln) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- gnomAD rs1347576607
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.35
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available