K7R (p.Lys7Arg) variant of PPP2R5D (Q14738)
K7R (p.Lys7Arg) in PPP2R5D (Q14738) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 6-42984692-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 29.80
- Population evidence available
- Structural context available
- Literature evidence available