S52N (p.Ser52Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S52N (p.Ser52Asn) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- gnomAD rs1379668860
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available