I98V (p.Ile98Val) variant of NPHS1 (Nephrin)
I98V (p.Ile98Val) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I98V (p.Ile98Val) variant details
- p.Ile98Val
- Ensembl rs1568457541
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available