A27T (p.Ala27Thr) variant of NPHS2 (Podocin)
A27T (p.Ala27Thr) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs1167176148
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- CADD 6.84
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available