S21R (p.Ser21Arg) variant of TAFAZZIN (Q16635)
S21R (p.Ser21Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs1557193530
- gnomAD X-154418574-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- CADD 2.62
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available