T42A (p.Thr42Ala) variant of SETD5 (Q9C0A6)
T42A (p.Thr42Ala) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- rs1273706097
- gnomAD 3-9429870-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 21.80
- Most common in the East Asian population (allele frequency 7.8e-05)
- Structural context available
- Literature evidence available