L36Q (p.Leu36Gln) variant of PDX1 (P52945)
L36Q (p.Leu36Gln) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L36Q (p.Leu36Gln) variant details
- p.Leu36Gln
- gnomAD 13-27920245-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available