V55I (p.Val55Ile) variant of NPHS1 (Nephrin)
V55I (p.Val55Ile) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- ExAC rs768382806
- TOPMed rs768382806
- gnomAD rs768382806
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available