S48I (p.Ser48Ile) variant of TUBB3 (Tubulin beta-3 chain)
S48I (p.Ser48Ile) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- gnomAD rs1464698913
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available