A11S (p.Ala11Ser) variant of TAFAZZIN (Q16635)
A11S (p.Ala11Ser) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- cosmic curated COSV10583
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 16.50
- PolyPhen-2 0.99
- SIFT 0.76
- Population evidence available
- Structural context available