R50P (p.Arg50Pro) variant of SETD5 (Q9C0A6)
R50P (p.Arg50Pro) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- gnomAD 3-9429859-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available