T40I (p.Thr40Ile) variant of HNF4A (P41235)
T40I (p.Thr40Ile) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- rs1449040232
- gnomAD 20-44401763-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0984
- CADD 2.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available