T5K (p.Thr5Lys) variant of NPHS1 (Nephrin)
T5K (p.Thr5Lys) 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 0.17 / 1. The record also includes population frequency data and structural context.
T5K (p.Thr5Lys) variant details
- p.Thr5Lys
- 1000Genomes rs191850409
- ExAC rs191850409
- TOPMed rs191850409
- gnomAD rs191850409
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.14
- CADD 1.16
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available