L12P (p.Leu12Pro) variant of NPHS1 (Nephrin)
L12P (p.Leu12Pro) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD rs1200535267
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.51
- CADD 24.20
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available