L70I (p.Leu70Ile) variant of NPHS1 (Nephrin)
L70I (p.Leu70Ile) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L70I (p.Leu70Ile) variant details
- p.Leu70Ile
- gnomAD rs1487823473
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.24
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available