A48A (p.Ala48Ala) variant of PPP2R5D (Q14738)
A48A (p.Ala48Ala) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- rs758659914
- gnomAD 6-43006501-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.068
- CADD 3.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available