S14L (p.Ser14Leu) variant of GABRB3 (P28472)
S14L (p.Ser14Leu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- gnomAD rs868500530
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available