R76T (p.Arg76Thr) variant of NPHS1 (Nephrin)
R76T (p.Arg76Thr) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R76T (p.Arg76Thr) variant details
- p.Arg76Thr
- ExAC rs777175636
- gnomAD rs777175636
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.17
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available