A19V (p.Ala19Val) variant of PPP2R5D (Q14738)
A19V (p.Ala19Val) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1241422647
- gnomAD rs1241422647
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.10
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available