S60N (p.Ser60Asn) variant of NPHS1 (Nephrin)
S60N (p.Ser60Asn) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- gnomAD rs1167489128
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available