A51T (p.Ala51Thr) variant of NPHS2 (Podocin)
A51T (p.Ala51Thr) 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.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- TOPMed rs911929132
- gnomAD rs911929132
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- CADD 3.56
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available