I62T (p.Ile62Thr) variant of HNF4A (P41235)
I62T (p.Ile62Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- rs531178712
- gnomAD 20-44402612-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 6.28
- Population evidence available
- Structural context available
- Literature evidence available