L5V (p.Leu5Val) variant of PPP2R5D (Q14738)
L5V (p.Leu5Val) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 6-42984690-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available