G74S (p.Gly74Ser) variant of NPHS2 (Podocin)
G74S (p.Gly74Ser) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; NPHS2-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G74S (p.Gly74Ser) variant details
- p.Gly74Ser
- rs200544576
- ClinGen CA1267294
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62634
- Uncertain significance
- not provided; NPHS2-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.33
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided; NPHS2-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- 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)