A2V (p.Ala2Val) variant of TBCD (Tubulin-specific chaperone D)
A2V (p.Ala2Val) in TBCD (Tubulin-specific chaperone D) 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 0.16 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1370974061
- ClinGen CA401622127
- cosmic curated COSV56181
- ClinVar RCV001944918
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.08
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available