N2N (p.Asn2Asn) variant of PDX1 (P52945)
N2N (p.Asn2Asn) in PDX1 (P52945) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N2N (p.Asn2Asn) variant details
- p.Asn2Asn
- rs146936598
- gnomAD 13-27920144-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 12.70
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available