V44G (p.Val44Gly) variant of NPHS1 (Nephrin)
V44G (p.Val44Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- ExAC rs756017240
- gnomAD rs756017240
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.56
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available