P73S (p.Pro73Ser) variant of NPHS1 (Nephrin)
P73S (p.Pro73Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- ESP rs376923714
- ExAC rs376923714
- TOPMed rs376923714
- gnomAD rs376923714
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.29
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available