T42T (p.Thr42Thr) variant of SETD5 (Q9C0A6)
T42T (p.Thr42Thr) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T42T (p.Thr42Thr) variant details
- p.Thr42Thr
- rs2040260948
- gnomAD 3-9433899-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 11.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available