P70S (p.Pro70Ser) variant of TUBB2B (Tubulin beta-2B chain)
P70S (p.Pro70Ser) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs1554126963
- ClinGen CA362589696
- ClinVar RCV000658023
- Ensembl rs1554126963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.96
- MetaLR 0.59
- MetaSVM 0.37
- PolyPhen-2 1.00
- EVE 0.31
- MutPred 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available