L4F (p.Leu4Phe) variant of GABRB3 (P28472)
L4F (p.Leu4Phe) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD rs1333693263
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available