S60G (p.Ser60Gly) variant of NPHS1 (Nephrin)
S60G (p.Ser60Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- Ensembl rs368676192
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.09
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available