T40K (p.Thr40Lys) variant of GABRB3 (P28472)
T40K (p.Thr40Lys) in GABRB3 (P28472) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T40K (p.Thr40Lys) variant details
- p.Thr40Lys
- TOPMed rs1178513934
- gnomAD rs1178513934
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.79
- CADD 28.40
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available