K13K (p.Lys13Lys) variant of PPP2R5D (Q14738)
K13K (p.Lys13Lys) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K13K (p.Lys13Lys) variant details
- p.Lys13Lys
- gnomAD 6-42989622-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 9.95
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available