T42M (p.Thr42Met) variant of NPHS1 (Nephrin)
T42M (p.Thr42Met) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T42M (p.Thr42Met) variant details
- p.Thr42Met
- rs754516370
- NCI-TCGA Cosmic COSV6228
- cosmic curated COSV62287
- 1000Genomes rs754516370
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.28
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available