N15K (p.Asn15Lys) variant of TCF7L2 (Transcription factor 7-like 2)
N15K (p.Asn15Lys) in TCF7L2 (Transcription factor 7-like 2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
N15K (p.Asn15Lys) variant details
- p.Asn15Lys
- 1000Genomes rs76088094
- ESP rs76088094
- ExAC rs76088094
- TOPMed rs76088094
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available