Q64A (p.Gln64Ala) variant of TBP (TATA-box-binding protein)
Q64A (p.Gln64Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q64A (p.Gln64Ala) variant details
- p.Gln64Ala
- rs1562359375
- gnomAD 6-170561925-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available