G38S (p.Gly38Ser) variant of GNAT1 (P11488)
G38S (p.Gly38Ser) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- gnomAD rs1347967126
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.72
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available