A61V (p.Ala61Val) variant of NPHS2 (Podocin)
A61V (p.Ala61Val) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Nephrotic syndrome, type 2; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs201050491
- ClinGen CA1267300
- cosmic curated COSV62635
- ClinVar RCV000517708
- Benign/Likely benign
- Nephrotic syndrome, type 2; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.34
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Benign/Likely benign (Nephrotic syndrome, type 2; not provided; not specified)
- EBI: Benign (in dbSNP:rs201050491)
- UniProt: Benign (in dbSNP:rs201050491)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. (PMID 15954915)