P13L (p.Pro13Leu) variant of TAFAZZIN (Q16635)
P13L (p.Pro13Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD rs1557190859
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available