L5P (p.Leu5Pro) variant of PPP2R5D (Q14738)
L5P (p.Leu5Pro) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 6-42984691-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available