P12L (p.Pro12Leu) variant of PPP2R5D (Q14738)
P12L (p.Pro12Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- TOPMed rs1306373469
- gnomAD rs1306373469
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available