K43R (p.Lys43Arg) variant of GABRB3 (P28472)
K43R (p.Lys43Arg) in GABRB3 (P28472) 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 0.42 / 1. The record also includes population frequency data and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- rs780661570
- ClinGen CA7437551
- ClinVar RCV003319122
- ExAC rs780661570
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.34
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available