P32L (p.Pro32Leu) variant of SETD5 (Q9C0A6)
P32L (p.Pro32Leu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- gnomAD 3-9429844-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available