K41T (p.Lys41Thr) variant of GABRG2 (P18507)
K41T (p.Lys41Thr) in GABRG2 (P18507) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K41T (p.Lys41Thr) variant details
- p.Lys41Thr
- rs756921875
- ExAC rs756921875
- gnomAD rs756921875
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.12
- MetaLR 0.28
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.31
- MutPred 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available