P8S (p.Pro8Ser) variant of TAFAZZIN (Q16635)
P8S (p.Pro8Ser) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- ExAC rs782099548
- gnomAD rs782099548
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available