V24I (p.Val24Ile) variant of TAFAZZIN (Q16635)
V24I (p.Val24Ile) in TAFAZZIN (Q16635) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs1557190907
- gnomAD rs1557190907
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available