L19M (p.Leu19Met) variant of TAFAZZIN (Q16635)
L19M (p.Leu19Met) in TAFAZZIN (Q16635) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- TOPMed rs1327665804
- gnomAD rs1327665804
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available