P14S (p.Pro14Ser) variant of TAFAZZIN (Q16635)
P14S (p.Pro14Ser) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD X-154411883-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 16.40
- PolyPhen-2 0.26
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available