G58R (p.Gly58Arg) variant of TAFAZZIN (Q16635)
G58R (p.Gly58Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs1468583691
- gnomAD X-154412003-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0971
- CADD 2.32
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available