P118A (p.Pro118Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P118A (p.Pro118Ala) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P118A (p.Pro118Ala) variant details
- p.Pro118Ala
- rs745356532
- ClinGen CA398751745
- ClinVar RCV003988555
- ExAC rs745356532
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 23.90
- PolyPhen-2 0.44
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available