K9del (p.Lys9del) variant of PPP2R5D (Q14738)
K9del (p.Lys9del) in PPP2R5D (Q14738) 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.
K9del (p.Lys9del) variant details
- rs768198586
- gnomAD 6-42984699-GAGA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available