L9F (p.Leu9Phe) variant of GABRB3 (P28472)
L9F (p.Leu9Phe) in GABRB3 (P28472) 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.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- 1000Genomes rs556238396
- ExAC rs556238396
- gnomAD rs556238396
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.67
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available