S16R (p.Ser16Arg) variant of HNF4A (P41235)
S16R (p.Ser16Arg) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- rs1372560432
- gnomAD 20-44355844-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available