P13R (p.Pro13Arg) variant of TAFAZZIN (Q16635)
P13R (p.Pro13Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD rs1557190859
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available