V49M (p.Val49Met) variant of TAFAZZIN (Q16635)
V49M (p.Val49Met) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- gnomAD X-154412121-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available