A100T (p.Ala100Thr) variant of NPHS1 (Nephrin)
A100T (p.Ala100Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- TOPMed rs1379397351
- gnomAD rs1379397351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.06
- CADD 13.00
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available