A248T (p.Ala248Thr) variant of NPHS2 (Podocin)
A248T (p.Ala248Thr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
A248T (p.Ala248Thr) variant details
- p.Ala248Thr
- rs2125780619
- ClinGen CA343566527
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Likely pathogenic
- Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.10
- MetaLR 0.94
- MetaSVM 0.53
- PolyPhen-2 0.89
- SIFT 0.91
- EVE 0.32
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available