G52A (p.Gly52Ala) variant of SETD5 (Q9C0A6)
G52A (p.Gly52Ala) 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.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- rs1195046695
- gnomAD 3-9429962-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 20.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available