S58T (p.Ser58Thr) variant of GNAT1 (P11488)
S58T (p.Ser58Thr) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S58T (p.Ser58Thr) variant details
- p.Ser58Thr
- gnomAD 3-50193287-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available