P57S (p.Pro57Ser) variant of SETD5 (Q9C0A6)
P57S (p.Pro57Ser) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- gnomAD 3-9429888-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available