V175L (p.Val175Leu) variant of TUBB3 (Tubulin beta-3 chain)
V175L (p.Val175Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Complex cortical dysplasia with other brain malformatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
V175L (p.Val175Leu) variant details
- p.Val175Leu
- rs1555625571
- ClinGen CA397474753
- ClinVar RCV000623368
- ClinVar RCV004819228
- Uncertain significance
- Inborn genetic diseases; Complex cortical dysplasia with other brain malformatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.23
- PolyPhen-2 0.23
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)