D13G (p.Asp13Gly) variant of SETD5 (Q9C0A6)
D13G (p.Asp13Gly) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- gnomAD 3-9428976-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available