A90D (p.Ala90Asp) variant of NPHS1 (Nephrin)
A90D (p.Ala90Asp) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes published literature and structural context.
A90D (p.Ala90Asp) variant details
- p.Ala90Asp
- rs1459119408
- ClinGen CA405411274
- ClinVar RCV004491016
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.95
- PolyPhen-2 0.08
- SIFT 0.27
- EVE 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)