E99K (p.Glu99Lys) variant of NPHS1 (Nephrin)
E99K (p.Glu99Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E99K (p.Glu99Lys) variant details
- p.Glu99Lys
- rs1006352232
- ClinGen CA307790726
- ClinVar RCV003085565
- ClinVar RCV003274209
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.96
- CADD 17.00
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)