P32S (p.Pro32Ser) variant of SETD5 (Q9C0A6)
P32S (p.Pro32Ser) 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.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- rs1188462369
- gnomAD 3-9429928-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 19.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available