S21L (p.Ser21Leu) variant of TAFAZZIN (Q16635)
S21L (p.Ser21Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- rs368429047
- gnomAD X-154413273-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.39
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available