A2T (p.Ala2Thr) variant of NPHS1 (Nephrin)
A2T (p.Ala2Thr) 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.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ExAC rs780342009
- gnomAD rs780342009
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 9.39
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available