K37K (p.Lys37Lys) variant of TAFAZZIN (Q16635)
K37K (p.Lys37Lys) in TAFAZZIN (Q16635) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K37K (p.Lys37Lys) variant details
- p.Lys37Lys
- rs2068326385
- gnomAD X-154412087-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available