D51Y (p.Asp51Tyr) variant of GABRA1 (P14867)
D51Y (p.Asp51Tyr) in GABRA1 (P14867) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available