V49V (p.Val49Val) variant of TAFAZZIN (Q16635)
V49V (p.Val49Val) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs781869867
- gnomAD X-154412123-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available