L3M (p.Leu3Met) variant of TBCD (Tubulin-specific chaperone D)
L3M (p.Leu3Met) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- NCI-TCGA Cosmic COSV5618
- cosmic curated COSV56181
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.09
- CADD 15.60
- PolyPhen-2 0.46
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available