S48G (p.Ser48Gly) variant of TUBB3 (Tubulin beta-3 chain)
S48G (p.Ser48Gly) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- TOPMed rs113165321
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available