T57P (p.Thr57Pro) variant of NPHS1 (Nephrin)
T57P (p.Thr57Pro) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T57P (p.Thr57Pro) variant details
- p.Thr57Pro
- gnomAD rs1441837750
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- CADD 13.40
- PolyPhen-2 0.10
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available