N2K (p.Asn2Lys) variant of PDX1 (P52945)
N2K (p.Asn2Lys) in PDX1 (P52945) 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 0.53 / 1. The record also includes population frequency data and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- 1000Genomes rs146936598
- ExAC rs146936598
- TOPMed rs146936598
- gnomAD rs146936598
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.64
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available