A19A (p.Ala19Ala) variant of PPP2R5D (Q14738)
A19A (p.Ala19Ala) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs748170805
- gnomAD 6-42989640-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 14.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available