T6N (p.Thr6Asn) variant of HNF4A (P41235)
T6N (p.Thr6Asn) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T6N (p.Thr6Asn) variant details
- p.Thr6Asn
- gnomAD 20-44401389-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.39
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available