G13S (p.Gly13Ser) variant of TUBB2B (Tubulin beta-2B chain)
G13S (p.Gly13Ser) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- gnomAD rs1484440779
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.84
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available