T42I (p.Thr42Ile) variant of SETD5 (Q9C0A6)
T42I (p.Thr42Ile) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- rs965663146
- gnomAD 3-9429871-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 21.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available