M39V (p.Met39Val) variant of TAFAZZIN (Q16635)
M39V (p.Met39Val) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- gnomAD X-154412091-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 21.50
- PolyPhen-2 0.14
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available