A36T (p.Ala36Thr) variant of NPHS1 (Nephrin)
A36T (p.Ala36Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- ExAC rs747796960
- TOPMed rs747796960
- gnomAD rs747796960
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available