S19R (p.Ser19Arg) variant of GABRA1 (P14867)
S19R (p.Ser19Arg) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD 5-161850867-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.40
- MetaLR 0.21
- MetaSVM -0.87
- CADD 16.40
- PolyPhen-2 0.08
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available