S100T (p.Ser100Thr) variant of GABRB3 (P28472)
S100T (p.Ser100Thr) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S100T (p.Ser100Thr) variant details
- p.Ser100Thr
- gnomAD rs1257480466
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.19
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available