V43A (p.Val43Ala) variant of NPHS1 (Nephrin)
V43A (p.Val43Ala) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- rs140626538
- ClinGen CA9390907
- ClinVar RCV000243577
- ClinVar RCV000588978
- Conflicting interpretations
- not specified; not provided; Congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.16
- CADD 13.10
- PolyPhen-2 0.06
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Congenital nephrotic syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)