K34T (p.Lys34Thr) variant of GNAS (P63092)
K34T (p.Lys34Thr) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- rs1944236486
- ClinGen CA409448978
- ClinVar RCV001572222
- Ensembl rs1944236486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.58
- CADD 18.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available