A20S (p.Ala20Ser) variant of TAFAZZIN (Q16635)
A20S (p.Ala20Ser) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD X-154411901-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available