S6R (p.Ser6Arg) variant of GNAT1 (P11488)
S6R (p.Ser6Arg) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- TOPMed rs1459356965
- gnomAD rs1459356965
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.55
- CADD 16.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available