A41S (p.Ala41Ser) variant of NPHS2 (Podocin)
A41S (p.Ala41Ser) in NPHS2 (Podocin) 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.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- rs764350609
- ClinGen CA1267316
- ClinVar RCV002909879
- ClinVar RCV003358021
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.26
- CADD 3.31
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)