A17T (p.Ala17Thr) variant of HNF4A (P41235)
A17T (p.Ala17Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- Ensembl rs2146340505
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- MetaLR 0.64
- MetaSVM -0.03
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available