D106G (p.Asp106Gly) variant of NPHS1 (Nephrin)
D106G (p.Asp106Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D106G (p.Asp106Gly) variant details
- p.Asp106Gly
- ExAC rs776058104
- gnomAD rs776058104
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.37
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available