F13L (p.Phe13Leu) variant of GABRB3 (P28472)
F13L (p.Phe13Leu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- gnomAD rs1370466943
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available