P14L (p.Pro14Leu) variant of TAFAZZIN (Q16635)
P14L (p.Pro14Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs782476453
- gnomAD X-154413318-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 7.16
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available