V37M (p.Val37Met) variant of TUBB3 (Tubulin beta-3 chain)
V37M (p.Val37Met) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs372720472
- ClinGen CA8255943
- ClinVar RCV000432537
- ESP rs372720472
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available