A4A (p.Ala4Ala) variant of SETD5 (Q9C0A6)
A4A (p.Ala4Ala) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs373289671
- gnomAD 3-9428950-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available