Q49P (p.Gln49Pro) variant of SETD5 (Q9C0A6)
Q49P (p.Gln49Pro) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q49P (p.Gln49Pro) variant details
- p.Gln49Pro
- rs775745393
- gnomAD 3-9429904-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available