K13T (p.Lys13Thr) variant of GBA1 (P04062)
K13T (p.Lys13Thr) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- 1000Genomes rs150466109
- ESP rs150466109
- ExAC rs150466109
- TOPMed rs150466109
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.09
- CADD 14.60
- PolyPhen-2 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available