P14R (p.Pro14Arg) variant of TAFAZZIN (Q16635)
P14R (p.Pro14Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- gnomAD X-154411884-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available