T48T (p.Thr48Thr) variant of SETD5 (Q9C0A6)
T48T (p.Thr48Thr) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- gnomAD 3-9433917-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 11.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available