A61T (p.Ala61Thr) variant of NPHS2 (Podocin)
A61T (p.Ala61Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- rs757457347
- ClinGen CA1267301
- ClinVar RCV002629887
- ClinVar RCV004072102
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.31
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs201050491)
- UniProt: Uncertain significance (in dbSNP:rs201050491)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)