L117M (p.Leu117Met) variant of TUBB3 (Tubulin beta-3 chain)
L117M (p.Leu117Met) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L117M (p.Leu117Met) variant details
- p.Leu117Met
- cosmic curated COSV59247
- ExAC rs754239056
- gnomAD rs754239056
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.34
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available