A22E (p.Ala22Glu) variant of NPHS1 (Nephrin)
A22E (p.Ala22Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- 1000Genomes rs116617171
- ExAC rs116617171
- TOPMed rs116617171
- gnomAD rs116617171
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- CADD 18.20
- PolyPhen-2 0.29
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available