V12V (p.Val12Val) variant of TAFAZZIN (Q16635)
V12V (p.Val12Val) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD X-154411879-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available