Q43K (p.Gln43Lys) variant of PPP2R5D (Q14738)
Q43K (p.Gln43Lys) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- gnomAD 6-43006484-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available