D102G (p.Asp102Gly) variant of NPHS1 (Nephrin)
D102G (p.Asp102Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D102G (p.Asp102Gly) variant details
- p.Asp102Gly
- Ensembl rs1599847663
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.81
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available