Q6R (p.Gln6Arg) variant of PDX1 (P52945)
Q6R (p.Gln6Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q6R (p.Gln6Arg) variant details
- p.Gln6Arg
- gnomAD 13-27920155-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available