T6K (p.Thr6Lys) variant of NPHS1 (Nephrin)
T6K (p.Thr6Lys) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- 1000Genomes rs150180768
- ESP rs150180768
- ExAC rs150180768
- TOPMed rs150180768
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- REVEL 0.06
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.66
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available