A27G (p.Ala27Gly) variant of NPHS2 (Podocin)
A27G (p.Ala27Gly) 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.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- TOPMed rs1455419528
- gnomAD rs1455419528
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.21
- CADD 6.50
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available