T14T (p.Thr14Thr) variant of SETD5 (Q9C0A6)
T14T (p.Thr14Thr) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T14T (p.Thr14Thr) variant details
- p.Thr14Thr
- rs1410758991
- gnomAD 3-9428980-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 10.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available