T6A (p.Thr6Ala) variant of HNF4A (P41235)
T6A (p.Thr6Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 20-44401388-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available