S22S (p.Ser22Ser) variant of TAFAZZIN (Q16635)
S22S (p.Ser22Ser) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- gnomAD X-154411909-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 13.30
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available