A41G (p.Ala41Gly) variant of NPHS2 (Podocin)
A41G (p.Ala41Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A41G (p.Ala41Gly) variant details
- p.Ala41Gly
- rs762708477
- ClinGen CA1267315
- ClinVar RCV002962192
- ExAC rs762708477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.31
- CADD 9.67
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available