P5L (p.Pro5Leu) variant of GABRA1 (P14867)
P5L (p.Pro5Leu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- gnomAD 5-161850824-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.96
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available