L3V (p.Leu3Val) variant of TBCD (Tubulin-specific chaperone D)
L3V (p.Leu3Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD 17-82752200-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.03
- CADD 4.44
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available